G108R (p.Gly108Arg) variant of KRT5 (Keratin, type II cytoskeletal 5)
G108R (p.Gly108Arg) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.57 / 1. The record also includes population frequency data and structural context.
G108R (p.Gly108Arg) variant details
- p.Gly108Arg
- 1000Genomes rs146022149
- ESP rs146022149
- ExAC rs146022149
- TOPMed rs146022149
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.54
- CADD 24.90
- PolyPhen-2 0.91
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available