D9H (p.Asp9His) variant of GABRA1 (P14867)
D9H (p.Asp9His) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D9H (p.Asp9His) variant details
- p.Asp9His
- gnomAD 5-161850835-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.18
- MetaLR 0.24
- MetaSVM -0.85
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available