G39D (p.Gly39Asp) variant of MMAB (Q96EY8)
G39D (p.Gly39Asp) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G39D (p.Gly39Asp) variant details
- p.Gly39Asp
- rs1466525448
- ClinGen CA386641183
- ClinVar RCV001277395
- TOPMed rs1466525448
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)