G43A (p.Gly43Ala) variant of KRT12 (Keratin, type I cytoskeletal 12)
G43A (p.Gly43Ala) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G43A (p.Gly43Ala) variant details
- p.Gly43Ala
- ExAC rs747832228
- gnomAD rs747832228
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.13
- CADD 4.92
- PolyPhen-2 0.03
- SIFT 0.27
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available