Y82H (p.Tyr82His) variant of GABRB3 (P28472)
Y82H (p.Tyr82His) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
Y82H (p.Tyr82His) variant details
- p.Tyr82His
- gnomAD rs1892483960
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.92
- CADD 28.50
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available