S74N (p.Ser74Asn) variant of KRT14 (Keratin, type I cytoskeletal 14)
S74N (p.Ser74Asn) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S74N (p.Ser74Asn) variant details
- p.Ser74Asn
- ExAC rs761188204
- gnomAD rs761188204
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.17
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available