L124V (p.Leu124Val) variant of ADH1B (P00325)
L124V (p.Leu124Val) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
L124V (p.Leu124Val) variant details
- p.Leu124Val
- ExAC rs758837020
- gnomAD rs758837020
- Missense
- Variant Prioritization Score for Impact Estimate 0.0533
- REVEL 0.04
- CADD 3.85
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available