G54A (p.Gly54Ala) variant of KRT12 (Keratin, type I cytoskeletal 12)
G54A (p.Gly54Ala) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G54A (p.Gly54Ala) variant details
- p.Gly54Ala
- ExAC rs774610996
- gnomAD rs774610996
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.20
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available