S30C (p.Ser30Cys) variant of KRT13 (Keratin, type I cytoskeletal 13)
S30C (p.Ser30Cys) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S30C (p.Ser30Cys) variant details
- p.Ser30Cys
- gnomAD rs1413336225
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.15
- CADD 23.70
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available