V4M (p.Val4Met) variant of MMADHC (Q9H3L0)
V4M (p.Val4Met) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V4M (p.Val4Met) variant details
- p.Val4Met
- ESP rs371740443
- TOPMed rs371740443
- gnomAD rs371740443
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.49
- CADD 26.40
- PolyPhen-2 0.33
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available