D137N (p.Asp137Asn) variant of KRT8 (Keratin, type II cytoskeletal 8)
D137N (p.Asp137Asn) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
D137N (p.Asp137Asn) variant details
- p.Asp137Asn
- TOPMed rs1479025322
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- CADD 23.10
- PolyPhen-2 0.31
- SIFT 0.05
- Most common in the East Asian population (allele frequency 0.00015)