V43I (p.Val43Ile) variant of PLCG2 (P16885)
V43I (p.Val43Ile) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autoinflammation-PLCG2-associated antibody deficiency-i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V43I (p.Val43Ile) variant details
- p.Val43Ile
- rs370352962
- ClinGen CA8193036
- cosmic curated COSV10084
- ClinVar RCV001224944
- Uncertain significance
- Inborn genetic diseases; Autoinflammation-PLCG2-associated antibody deficiency-i
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- AlphaMissense 0.71
- MetaLR 0.06
- MetaSVM -0.94
- CADD 22.30
- PolyPhen-2 0.97
- SIFT 0.80
- ClinVar: Uncertain significance (Inborn genetic diseases; Autoinflammation-PLCG2-associated antib)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.228
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)