V52G (p.Val52Gly) variant of PLCG2 (P16885)
V52G (p.Val52Gly) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V52G (p.Val52Gly) variant details
- p.Val52Gly
- cosmic curated COSV63869
- ExAC rs762228969
- gnomAD rs762228969
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.327