Y13H (p.Tyr13His) variant of PLCG2 (P16885)
Y13H (p.Tyr13His) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y13H (p.Tyr13His) variant details
- p.Tyr13His
- gnomAD 16-81786026-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.0997
- Literature evidence available