D33G (p.Asp33Gly) variant of GABRA1 (P14867)
D33G (p.Asp33Gly) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D33G (p.Asp33Gly) variant details
- p.Asp33Gly
- gnomAD 5-161854181-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.50
- MetaLR 0.43
- MetaSVM -0.19
- CADD 31.00
- PolyPhen-2 0.77
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available