V56A (p.Val56Ala) variant of MMADHC (Q9H3L0)
V56A (p.Val56Ala) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria and homocystinuria type cblD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V56A (p.Val56Ala) variant details
- p.Val56Ala
- gnomAD rs1176730276
- Uncertain significance
- Methylmalonic aciduria and homocystinuria type cblD
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.56
- CADD 23.20
- ClinVar: Uncertain significance (Methylmalonic aciduria and homocystinuria type cblD)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available