C73Y (p.Cys73Tyr) variant of KRT4 (Keratin, type II cytoskeletal 4)
C73Y (p.Cys73Tyr) in KRT4 (Keratin, type II cytoskeletal 4) 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.
C73Y (p.Cys73Tyr) variant details
- p.Cys73Tyr
- NCI-TCGA TCGA novel
- Ensembl rs1939958547
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.22
- CADD 16.30
- PolyPhen-2 0.12
- SIFT 0.59
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available