G104D (p.Gly104Asp) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G104D (p.Gly104Asp) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G104D (p.Gly104Asp) variant details
- p.Gly104Asp
- gnomAD rs1416806354
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.50
- CADD 9.39
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available