R122C (p.Arg122Cys) variant of KRT2 (P35908)
R122C (p.Arg122Cys) in KRT2 (P35908) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R122C (p.Arg122Cys) variant details
- p.Arg122Cys
- rs530180060
- NCI-TCGA Cosmic COSV5900
- 1000Genomes rs530180060
- TOPMed rs530180060
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.36
- CADD 15.30
- PolyPhen-2 0.45
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available