S15F (p.Ser15Phe) variant of HADHB (P55084)
S15F (p.Ser15Phe) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S15F (p.Ser15Phe) variant details
- p.Ser15Phe
- gnomAD 2-26261034-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 7.46
- Population evidence available
- Structural context available
- Literature evidence available