R130M (p.Arg130Met) variant of ADH1B (P00325)
R130M (p.Arg130Met) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R130M (p.Arg130Met) variant details
- p.Arg130Met
- gnomAD rs1209720675
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.35
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available