E131G (p.Glu131Gly) variant of MMADHC (Q9H3L0)
E131G (p.Glu131Gly) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E131G (p.Glu131Gly) variant details
- p.Glu131Gly
- TOPMed rs1294350745
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.27
- CADD 23.30
- PolyPhen-2 0.12
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available