S75G (p.Ser75Gly) variant of KRT14 (Keratin, type I cytoskeletal 14)
S75G (p.Ser75Gly) 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.
S75G (p.Ser75Gly) variant details
- p.Ser75Gly
- ExAC rs763711752
- gnomAD rs763711752
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.12
- CADD 18.60
- PolyPhen-2 0.06
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available