S5L (p.Ser5Leu) variant of KRT5 (Keratin, type II cytoskeletal 5)
S5L (p.Ser5Leu) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S5L (p.Ser5Leu) variant details
- p.Ser5Leu
- ExAC rs58751565
- TOPMed rs58751565
- gnomAD rs58751565
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.24
- CADD 24.90
- PolyPhen-2 0.01
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available