R38C (p.Arg38Cys) variant of KRT1 (Keratin, type II cytoskeletal 1)
R38C (p.Arg38Cys) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- rs779045977
- NCI-TCGA Cosmic COSV5286
- ExAC rs779045977
- TOPMed rs779045977
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.41
- CADD 25.10
- PolyPhen-2 0.45
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available