R94T (p.Arg94Thr) variant of KRT17 (Keratin, type I cytoskeletal 17)
R94T (p.Arg94Thr) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R94T (p.Arg94Thr) variant details
- p.Arg94Thr
- gnomAD 17-41620460-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 6.45
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available