A50E (p.Ala50Glu) variant of KRT6B (Keratin, type II cytoskeletal 6B)
A50E (p.Ala50Glu) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A50E (p.Ala50Glu) variant details
- p.Ala50Glu
- ExAC rs774980327
- gnomAD rs774980327
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.26
- CADD 0.91
- PolyPhen-2 0.05
- SIFT 0.24
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available