A104G (p.Ala104Gly) variant of MMADHC (Q9H3L0)
A104G (p.Ala104Gly) in MMADHC (Q9H3L0) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A104G (p.Ala104Gly) variant details
- p.Ala104Gly
- 1000Genomes rs533388008
- ExAC rs533388008
- TOPMed rs533388008
- gnomAD rs533388008
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.25
- CADD 18.20
- PolyPhen-2 0.19
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available