S29G (p.Ser29Gly) variant of KRT14 (Keratin, type I cytoskeletal 14)
S29G (p.Ser29Gly) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S29G (p.Ser29Gly) variant details
- p.Ser29Gly
- ExAC rs753987047
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.27
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available