G88D (p.Gly88Asp) variant of KRT13 (Keratin, type I cytoskeletal 13)
G88D (p.Gly88Asp) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G88D (p.Gly88Asp) variant details
- p.Gly88Asp
- ESP rs140342847
- ExAC rs140342847
- TOPMed rs140342847
- gnomAD rs140342847
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.48
- CADD 23.20
- PolyPhen-2 0.65
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available