R65L (p.Arg65Leu) variant of KRT1 (Keratin, type II cytoskeletal 1)
R65L (p.Arg65Leu) in KRT1 (Keratin, type II cytoskeletal 1) 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 0.49 / 1. The record also includes population frequency data and structural context.
R65L (p.Arg65Leu) variant details
- p.Arg65Leu
- 1000Genomes rs552006414
- ExAC rs552006414
- TOPMed rs552006414
- gnomAD rs552006414
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.40
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available