R15L (p.Arg15Leu) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R15L (p.Arg15Leu) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- ExAC rs779144610
- gnomAD rs779144610
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0965
- REVEL 0.09
- CADD 7.51
- PolyPhen-2 0.02
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available