G122R (p.Gly122Arg) variant of ADH1B (P00325)
G122R (p.Gly122Arg) 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 0.38 / 1. The record also includes population frequency data and structural context.
G122R (p.Gly122Arg) variant details
- p.Gly122Arg
- NCI-TCGA Cosmic COSV1005
- NCI-TCGA Cosmic COSV5929
- cosmic curated COSV59294
- Ensembl rs1733878523
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.14
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available