G49D (p.Gly49Asp) variant of KRT14 (Keratin, type I cytoskeletal 14)
G49D (p.Gly49Asp) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G49D (p.Gly49Asp) variant details
- p.Gly49Asp
- gnomAD rs1486286930
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.43
- CADD 15.60
- PolyPhen-2 0.43
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available