M47V (p.Met47Val) variant of PLCG2 (P16885)
M47V (p.Met47Val) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M47V (p.Met47Val) variant details
- p.Met47Val
- gnomAD 16-81786128-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.0869
- Literature evidence available