N110K (p.Asn110Lys) variant of KRT13 (Keratin, type I cytoskeletal 13)
N110K (p.Asn110Lys) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
N110K (p.Asn110Lys) variant details
- p.Asn110Lys
- ExAC rs767943356
- gnomAD rs767943356
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.73
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available