Q125R (p.Gln125Arg) variant of ADH1B (P00325)
Q125R (p.Gln125Arg) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
Q125R (p.Gln125Arg) variant details
- p.Gln125Arg
- ExAC rs753196280
- gnomAD rs753196280
- Missense
- Variant Prioritization Score for Impact Estimate 0.0607
- REVEL 0.03
- CADD 6.47
- PolyPhen-2 0.03
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available