C42F (p.Cys42Phe) variant of KRT2 (P35908)
C42F (p.Cys42Phe) in KRT2 (P35908) 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 0.46 / 1. The record also includes population frequency data and structural context.
C42F (p.Cys42Phe) variant details
- p.Cys42Phe
- NCI-TCGA Cosmic COSV5901
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.28
- CADD 20.50
- PolyPhen-2 0.24
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available