A117V (p.Ala117Val) variant of MMADHC (Q9H3L0)
A117V (p.Ala117Val) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A117V (p.Ala117Val) variant details
- p.Ala117Val
- ExAC rs779439863
- TOPMed rs779439863
- gnomAD rs779439863
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.82
- CADD 29.50
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available