G56S (p.Gly56Ser) variant of KRT12 (Keratin, type I cytoskeletal 12)
G56S (p.Gly56Ser) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G56S (p.Gly56Ser) variant details
- p.Gly56Ser
- TOPMed rs1321447707
- gnomAD rs1321447707
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.19
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available