A43D (p.Ala43Asp) variant of ADH1B (P00325)
A43D (p.Ala43Asp) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A43D (p.Ala43Asp) variant details
- p.Ala43Asp
- Ensembl rs1733936570
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.29
- CADD 23.40
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available