S30P (p.Ser30Pro) variant of HADHB (P55084)
S30P (p.Ser30Pro) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S30P (p.Ser30Pro) variant details
- p.Ser30Pro
- gnomAD 2-26254452-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available