S27N (p.Ser27Asn) variant of KRT8 (Keratin, type II cytoskeletal 8)
S27N (p.Ser27Asn) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
S27N (p.Ser27Asn) variant details
- p.Ser27Asn
- gnomAD rs1351844057
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 19.10
- PolyPhen-2 0.76
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.0007)