S114L (p.Ser114Leu) variant of KRT12 (Keratin, type I cytoskeletal 12)
S114L (p.Ser114Leu) 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 0.25 / 1. The record also includes population frequency data and structural context.
S114L (p.Ser114Leu) variant details
- p.Ser114Leu
- ExAC rs746417734
- TOPMed rs746417734
- gnomAD rs746417734
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.11
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available