M62I (p.Met62Ile) variant of MMADHC (Q9H3L0)
M62I (p.Met62Ile) 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 0.78 / 1. The record also includes population frequency data and structural context.
M62I (p.Met62Ile) variant details
- p.Met62Ile
- TOPMed rs1682767231
- cosmic curated COSV10030
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.79
- CADD 24.80
- PolyPhen-2 0.51
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available