G54E (p.Gly54Glu) variant of KRT12 (Keratin, type I cytoskeletal 12)
G54E (p.Gly54Glu) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G54E (p.Gly54Glu) variant details
- p.Gly54Glu
- ExAC rs774610996
- gnomAD rs774610996
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.32
- CADD 16.90
- PolyPhen-2 0.52
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available