R15L (p.Arg15Leu) variant of KRT6A (Keratin, type II cytoskeletal 6A)
R15L (p.Arg15Leu) in KRT6A (Keratin, type II cytoskeletal 6A) 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 0.11 / 1. The record also includes population frequency data and structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- rs533157590
- NCI-TCGA Cosmic COSV1004
- 1000Genomes rs533157590
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.09
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available