I78V (p.Ile78Val) variant of MMADHC (Q9H3L0)
I78V (p.Ile78Val) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I78V (p.Ile78Val) variant details
- p.Ile78Val
- ExAC rs753336371
- TOPMed rs753336371
- gnomAD rs753336371
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.21
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available