p.Phe72 Cys88del variant of KRT17 (Keratin, type I cytoskeletal 17)
p.Phe72 Cys88del in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
p.Phe72 Cys88del variant details
- gnomAD 17-41620466-CAGCA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 5.83
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available