D32H (p.Asp32His) variant of GNA11 (P29992)
D32H (p.Asp32His) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D32H (p.Asp32His) variant details
- p.Asp32His
- gnomAD 19-3094745-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.67
- CADD 25.00
- PolyPhen-2 0.12
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available