R130S (p.Arg130Ser) variant of ADH1B (P00325)
R130S (p.Arg130Ser) in ADH1B (P00325) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R130S (p.Arg130Ser) variant details
- p.Arg130Ser
- rs1026817832
- Ensembl rs1026817832
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.38
- CADD 17.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available