A18D (p.Ala18Asp) variant of HADHB (P55084)
A18D (p.Ala18Asp) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- gnomAD 2-26254307-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.51
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available