V30L (p.Val30Leu) variant of PLCG2 (P16885)
V30L (p.Val30Leu) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Familial cold autoinflammatory syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- rs372502550
- ClinGen CA8193021
- ClinVar RCV001425620
- ClinVar RCV002555515
- Conflicting interpretations
- Inborn genetic diseases; Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Familial cold autoinflammatory syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00099)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score 0.0387
- 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)