A11V (p.Ala11Val) variant of PLCG2 (P16885)
A11V (p.Ala11Val) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated ant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- rs753458249
- ClinGen CA8193008
- cosmic curated COSV63877
- ClinVar RCV001952298
- Uncertain significance
- Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated ant
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.764
- 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)