V28A (p.Val28Ala) variant of GABRB3 (P28472)
V28A (p.Val28Ala) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V28A (p.Val28Ala) variant details
- p.Val28Ala
- ExAC rs777797308
- gnomAD rs777797308
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.22
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available