V30G (p.Val30Gly) variant of PLCG2 (P16885)
V30G (p.Val30Gly) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V30G (p.Val30Gly) variant details
- p.Val30Gly
- gnomAD 16-81786078-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 28.40
- PolyPhen-2 0.58
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score 0.0387
- Literature evidence available