R65Q (p.Arg65Gln) variant of KRT1 (Keratin, type II cytoskeletal 1)
R65Q (p.Arg65Gln) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. 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.
R65Q (p.Arg65Gln) variant details
- p.Arg65Gln
- rs552006414
- ClinGen CA6586480
- ClinVar RCV003548448
- 1000Genomes rs552006414
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.25
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available