S124N (p.Ser124Asn) variant of KRT1 (Keratin, type II cytoskeletal 1)
S124N (p.Ser124Asn) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S124N (p.Ser124Asn) variant details
- p.Ser124Asn
- 1000Genomes rs545263441
- TOPMed rs545263441
- gnomAD rs545263441
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.11
- CADD 3.52
- PolyPhen-2 0.06
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available