G68S (p.Gly68Ser) variant of KRT12 (Keratin, type I cytoskeletal 12)
G68S (p.Gly68Ser) 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.
G68S (p.Gly68Ser) variant details
- p.Gly68Ser
- TOPMed rs1322024236
- gnomAD rs1322024236
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.23
- CADD 20.30
- PolyPhen-2 0.14
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available