A105G (p.Ala105Gly) variant of KRT14 (Keratin, type I cytoskeletal 14)
A105G (p.Ala105Gly) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A105G (p.Ala105Gly) variant details
- p.Ala105Gly
- Ensembl rs1555572045
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.19
- CADD 2.53
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available