I46V (p.Ile46Val) variant of PLCG2 (P16885)
I46V (p.Ile46Val) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I46V (p.Ile46Val) variant details
- p.Ile46Val
- gnomAD 16-81786125-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 23.70
- PolyPhen-2 0.95
- SIFT 0.08
- Population evidence available
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.223
- Literature evidence available