G94D (p.Gly94Asp) variant of KRT5 (Keratin, type II cytoskeletal 5)
G94D (p.Gly94Asp) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G94D (p.Gly94Asp) variant details
- p.Gly94Asp
- ExAC rs778696476
- TOPMed rs778696476
- gnomAD rs778696476
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.40
- CADD 21.60
- PolyPhen-2 0.15
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available