A58V (p.Ala58Val) variant of PLCG2 (P16885)
A58V (p.Ala58Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- rs753845661
- ClinGen CA8193052
- ClinVar RCV000650043
- ExAC rs753845661
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.09
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available