S44N (p.Ser44Asn) variant of KRT14 (Keratin, type I cytoskeletal 14)
S44N (p.Ser44Asn) in KRT14 (Keratin, type I cytoskeletal 14) 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 0.33 / 1. The record also includes population frequency data and structural context.
S44N (p.Ser44Asn) variant details
- p.Ser44Asn
- rs773041960
- ExAC rs773041960
- gnomAD rs773041960
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.27
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available