G123A (p.Gly123Ala) variant of KRT12 (Keratin, type I cytoskeletal 12)
G123A (p.Gly123Ala) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G123A (p.Gly123Ala) variant details
- p.Gly123Ala
- ExAC rs758712817
- TOPMed rs758712817
- gnomAD rs758712817
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.27
- CADD 20.50
- PolyPhen-2 0.19
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available