D33H (p.Asp33His) variant of GABRA1 (P14867)
D33H (p.Asp33His) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D33H (p.Asp33His) variant details
- p.Asp33His
- gnomAD 5-161854180-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.53
- MetaLR 0.52
- MetaSVM 0.13
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available