S124N (p.Ser124Asn) variant of KRT8 (Keratin, type II cytoskeletal 8)
S124N (p.Ser124Asn) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
S124N (p.Ser124Asn) variant details
- p.Ser124Asn
- Ensembl rs1941383930
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- CADD 13.50
- PolyPhen-2 0.08
- SIFT 0.25
- Most common in the 1KG:CLM population (allele frequency 0.0053)