S60I (p.Ser60Ile) variant of KRT4 (Keratin, type II cytoskeletal 4)
S60I (p.Ser60Ile) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S60I (p.Ser60Ile) variant details
- p.Ser60Ile
- TOPMed rs1416524668
- gnomAD rs1416524668
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.44
- CADD 17.10
- PolyPhen-2 0.17
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available