G66D (p.Gly66Asp) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G66D (p.Gly66Asp) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G66D (p.Gly66Asp) variant details
- p.Gly66Asp
- 1000Genomes rs562648897
- ExAC rs562648897
- TOPMed rs562648897
- gnomAD rs562648897
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.29
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available