S66T (p.Ser66Thr) variant of KRT12 (Keratin, type I cytoskeletal 12)
S66T (p.Ser66Thr) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. 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.
S66T (p.Ser66Thr) variant details
- p.Ser66Thr
- 1000Genomes rs202056647
- ExAC rs202056647
- TOPMed rs202056647
- gnomAD rs202056647
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.18
- CADD 12.70
- PolyPhen-2 0.20
- SIFT 0.20
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available