V28L (p.Val28Leu) variant of GABRB3 (P28472)
V28L (p.Val28Leu) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V28L (p.Val28Leu) variant details
- p.Val28Leu
- gnomAD rs1212831525
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.25
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available