N129D (p.Asn129Asp) variant of KRT13 (Keratin, type I cytoskeletal 13)
N129D (p.Asn129Asp) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
N129D (p.Asn129Asp) variant details
- p.Asn129Asp
- gnomAD rs1457115259
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.88
- CADD 24.70
- PolyPhen-2 0.87
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available