R37L (p.Arg37Leu) variant of KRT5 (Keratin, type II cytoskeletal 5)
R37L (p.Arg37Leu) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.40 / 1. The record also includes population frequency data and structural context.
R37L (p.Arg37Leu) variant details
- p.Arg37Leu
- 1000Genomes rs61747181
- ESP rs61747181
- ExAC rs61747181
- TOPMed rs61747181
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.29
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.64
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available