H52R (p.His52Arg) variant of ADH1B (P00325)
H52R (p.His52Arg) 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.
H52R (p.His52Arg) variant details
- p.His52Arg
- Ensembl rs1733935157
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.28
- CADD 23.40
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available