V43A (p.Val43Ala) variant of PLCG2 (P16885)
V43A (p.Val43Ala) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V43A (p.Val43Ala) variant details
- p.Val43Ala
- gnomAD 16-81786117-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 24.70
- PolyPhen-2 0.20
- SIFT 0.03
- Population evidence available
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.228
- Literature evidence available