S38A (p.Ser38Ala) variant of KRT13 (Keratin, type I cytoskeletal 13)
S38A (p.Ser38Ala) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S38A (p.Ser38Ala) variant details
- p.Ser38Ala
- TOPMed rs1905032243
- gnomAD rs1905032243
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.07
- CADD 11.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available