R4G (p.Arg4Gly) variant of KRT13 (Keratin, type I cytoskeletal 13)
R4G (p.Arg4Gly) in KRT13 (Keratin, type I cytoskeletal 13) 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 0.47 / 1. The record also includes population frequency data and structural context.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- ExAC rs758585565
- TOPMed rs758585565
- gnomAD rs758585565
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.37
- CADD 19.70
- PolyPhen-2 0.17
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available