R10G (p.Arg10Gly) variant of KRT5 (Keratin, type II cytoskeletal 5)
R10G (p.Arg10Gly) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- 1000Genomes rs148526538
- ESP rs148526538
- ExAC rs148526538
- TOPMed rs148526538
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.21
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available