S68A (p.Ser68Ala) variant of KRT4 (Keratin, type II cytoskeletal 4)
S68A (p.Ser68Ala) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
S68A (p.Ser68Ala) variant details
- p.Ser68Ala
- ExAC rs763869321
- TOPMed rs763869321
- gnomAD rs763869321
- Missense
- Variant Prioritization Score for Impact Estimate 0.0935
- REVEL 0.11
- CADD 2.86
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available