G23D (p.Gly23Asp) variant of MMAB (Q96EY8)
G23D (p.Gly23Asp) 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; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- rs767706407
- ClinGen CA6779069
- ClinVar RCV001113945
- ClinVar RCV002556226
- Uncertain significance
- Methylmalonic aciduria, cblB type; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.34
- ESM-1b 0.89
- AlphaMissense 0.16
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type; not provided; Inborn genetic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)