R48G (p.Arg48Gly) variant of KRT5 (Keratin, type II cytoskeletal 5)
R48G (p.Arg48Gly) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R48G (p.Arg48Gly) variant details
- p.Arg48Gly
- 1000Genomes rs61747180
- ESP rs61747180
- ExAC rs61747180
- TOPMed rs61747180
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.32
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.19
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available