W17C (p.Trp17Cys) variant of HADHB (P55084)
W17C (p.Trp17Cys) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
W17C (p.Trp17Cys) variant details
- p.Trp17Cys
- rs764471823
- gnomAD 2-26261056-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 8.52
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available