A18V (p.Ala18Val) variant of HADHB (P55084)
A18V (p.Ala18Val) in HADHB (P55084) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs1313401825
- TOPMed rs1313401825
- gnomAD rs1313401825
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.28
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available