Y34H (p.Tyr34His) variant of GABRG2 (P18507)
Y34H (p.Tyr34His) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Y34H (p.Tyr34His) variant details
- p.Tyr34His
- gnomAD 5-162068099-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- MetaLR 0.18
- MetaSVM -0.82
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available