N58S (p.Asn58Ser) variant of KRT4 (Keratin, type II cytoskeletal 4)
N58S (p.Asn58Ser) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N58S (p.Asn58Ser) variant details
- p.Asn58Ser
- TOPMed rs926500542
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.03
- CADD 2.62
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available