S64N (p.Ser64Asn) variant of KRT1 (Keratin, type II cytoskeletal 1)
S64N (p.Ser64Asn) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S64N (p.Ser64Asn) variant details
- p.Ser64Asn
- ExAC rs760593492
- TOPMed rs760593492
- gnomAD rs760593492
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.44
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available