N129S (p.Asn129Ser) variant of KRT13 (Keratin, type I cytoskeletal 13)
N129S (p.Asn129Ser) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
N129S (p.Asn129Ser) variant details
- p.Asn129Ser
- ESP rs150899638
- ExAC rs150899638
- gnomAD rs150899638
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.87
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available