G35A (p.Gly35Ala) variant of MMADHC (Q9H3L0)
G35A (p.Gly35Ala) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G35A (p.Gly35Ala) variant details
- p.Gly35Ala
- gnomAD rs1057389942
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.65
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available