L94M (p.Leu94Met) variant of MMADHC (Q9H3L0)
L94M (p.Leu94Met) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L94M (p.Leu94Met) variant details
- p.Leu94Met
- ExAC rs774165572
- TOPMed rs774165572
- gnomAD rs774165572
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.30
- CADD 22.70
- PolyPhen-2 0.42
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available