V56G (p.Val56Gly) variant of MMADHC (Q9H3L0)
V56G (p.Val56Gly) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
V56G (p.Val56Gly) variant details
- p.Val56Gly
- gnomAD rs1176730276
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.69
- CADD 23.50
- PolyPhen-2 0.08
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available