R13S (p.Arg13Ser) variant of KRT12 (Keratin, type I cytoskeletal 12)
R13S (p.Arg13Ser) 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 0.13 / 1. The record also includes population frequency data and structural context.
R13S (p.Arg13Ser) variant details
- p.Arg13Ser
- ExAC rs745817473
- TOPMed rs745817473
- gnomAD rs745817473
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.14
- CADD 8.00
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available