G5D (p.Gly5Asp) variant of MMAB (Q96EY8)
G5D (p.Gly5Asp) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- rs769048646
- ClinGen CA6779087
- ClinVar RCV001277396
- ClinVar RCV004035446
- Uncertain significance
- Methylmalonic aciduria, cblB type; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 7.94
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)