A37D (p.Ala37Asp) variant of HADHB (P55084)
A37D (p.Ala37Asp) 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 0.47 / 1. The record also includes population frequency data and structural context.
A37D (p.Ala37Asp) variant details
- p.Ala37Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.53
- CADD 18.70
- PolyPhen-2 0.10
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available