S16N (p.Ser16Asn) variant of KRT4 (Keratin, type II cytoskeletal 4)
S16N (p.Ser16Asn) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S16N (p.Ser16Asn) variant details
- p.Ser16Asn
- TOPMed rs1020179413
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.44
- CADD 23.50
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available