S37R (p.Ser37Arg) variant of KRT12 (Keratin, type I cytoskeletal 12)
S37R (p.Ser37Arg) 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 0.19 / 1. The record also includes population frequency data and structural context.
S37R (p.Ser37Arg) variant details
- p.Ser37Arg
- TOPMed rs1302976723
- gnomAD rs1302976723
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.24
- CADD 10.50
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available