N100D (p.Asn100Asp) variant of KRT8 (Keratin, type II cytoskeletal 8)
N100D (p.Asn100Asp) in KRT8 (Keratin, type II cytoskeletal 8) 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.
N100D (p.Asn100Asp) variant details
- p.Asn100Asp
- ExAC rs752507895
- TOPMed rs752507895
- gnomAD rs752507895
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 24.70
- PolyPhen-2 0.91
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00012)