S79N (p.Ser79Asn) variant of KRT14 (Keratin, type I cytoskeletal 14)
S79N (p.Ser79Asn) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. 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.
S79N (p.Ser79Asn) variant details
- p.Ser79Asn
- ExAC rs775825212
- gnomAD rs775825212
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.13
- CADD 3.12
- PolyPhen-2 0.04
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available