R41K (p.Arg41Lys) variant of PLCG2 (P16885)
R41K (p.Arg41Lys) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R41K (p.Arg41Lys) variant details
- p.Arg41Lys
- gnomAD 16-81786111-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 22.90
- PolyPhen-2 0.29
- SIFT 0.45
- Population evidence available
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.557
- Literature evidence available