D40G (p.Asp40Gly) variant of MMADHC (Q9H3L0)
D40G (p.Asp40Gly) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
D40G (p.Asp40Gly) variant details
- p.Asp40Gly
- gnomAD rs1248521016
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.75
- CADD 28.40
- PolyPhen-2 0.81
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available