Q44H (p.Gln44His) variant of PLCG2 (P16885)
Q44H (p.Gln44His) 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.
Q44H (p.Gln44His) variant details
- p.Gln44His
- gnomAD 16-81786121-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.116
- Literature evidence available