E127D (p.Glu127Asp) variant of KRT12 (Keratin, type I cytoskeletal 12)
E127D (p.Glu127Asp) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E127D (p.Glu127Asp) variant details
- p.Glu127Asp
- TOPMed rs1232158974
- gnomAD rs1232158974
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.46
- CADD 21.20
- PolyPhen-2 0.72
- SIFT 0.32
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available