Q132P (p.Gln132Pro) variant of MMADHC (Q9H3L0)
Q132P (p.Gln132Pro) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Q132P (p.Gln132Pro) variant details
- p.Gln132Pro
- TOPMed rs1232191985
- gnomAD rs1232191985
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.61
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available