R31K (p.Arg31Lys) variant of KRT12 (Keratin, type I cytoskeletal 12)
R31K (p.Arg31Lys) 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 0.33 / 1. The record also includes population frequency data and structural context.
R31K (p.Arg31Lys) variant details
- p.Arg31Lys
- ESP rs370150894
- ExAC rs370150894
- TOPMed rs370150894
- gnomAD rs370150894
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.20
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available