R137S (p.Arg137Ser) variant of KRT13 (Keratin, type I cytoskeletal 13)
R137S (p.Arg137Ser) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R137S (p.Arg137Ser) variant details
- p.Arg137Ser
- 1000Genomes rs142183272
- ESP rs142183272
- ExAC rs142183272
- TOPMed rs142183272
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.61
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available