G43R (p.Gly43Arg) variant of KRT12 (Keratin, type I cytoskeletal 12)
G43R (p.Gly43Arg) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- 1000Genomes rs548422937
- ExAC rs548422937
- TOPMed rs548422937
- gnomAD rs548422937
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.34
- CADD 15.60
- PolyPhen-2 0.08
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available