P21R (p.Pro21Arg) variant of ADH1B (P00325)
P21R (p.Pro21Arg) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- ExAC rs761102982
- gnomAD rs761102982
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.44
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available