A14S (p.Ala14Ser) variant of HADHB (P55084)
A14S (p.Ala14Ser) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD 2-26261063-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- CADD 15.70
- Population evidence available
- Structural context available
- Literature evidence available