G101A (p.Gly101Ala) variant of KRT14 (Keratin, type I cytoskeletal 14)
G101A (p.Gly101Ala) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G101A (p.Gly101Ala) variant details
- p.Gly101Ala
- 1000Genomes rs536296269
- ExAC rs536296269
- gnomAD rs536296269
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.38
- CADD 10.90
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available