S60N (p.Ser60Asn) variant of KRT4 (Keratin, type II cytoskeletal 4)
S60N (p.Ser60Asn) 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 0.29 / 1. The record also includes population frequency data and structural context.
S60N (p.Ser60Asn) variant details
- p.Ser60Asn
- rs1416524668
- NCI-TCGA Cosmic COSV5340
- TOPMed rs1416524668
- gnomAD rs1416524668
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.28
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available