S144N (p.Ser144Asn) variant of KRT13 (Keratin, type I cytoskeletal 13)
S144N (p.Ser144Asn) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S144N (p.Ser144Asn) variant details
- p.Ser144Asn
- cosmic curated COSV55840
- TOPMed rs1004626014
- gnomAD rs1004626014
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.29
- CADD 16.30
- PolyPhen-2 0.48
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available