E131D (p.Glu131Asp) variant of MMADHC (Q9H3L0)
E131D (p.Glu131Asp) in MMADHC (Q9H3L0) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
E131D (p.Glu131Asp) variant details
- p.Glu131Asp
- TOPMed rs1682721203
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.08
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.19
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available