G70D (p.Gly70Asp) variant of KRT5 (Keratin, type II cytoskeletal 5)
G70D (p.Gly70Asp) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G70D (p.Gly70Asp) variant details
- p.Gly70Asp
- ExAC rs540081758
- TOPMed rs540081758
- gnomAD rs540081758
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.41
- CADD 23.10
- PolyPhen-2 0.26
- SIFT 0.00
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available