V5A (p.Val5Ala) variant of PLCG2 (P16885)
V5A (p.Val5Ala) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- gnomAD 16-81786003-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0722
- CADD 0.18
- PolyPhen-2 0.00
- SIFT 0.76
- Population evidence available
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.913
- Literature evidence available