L18M (p.Leu18Met) variant of MMAB (Q96EY8)
L18M (p.Leu18Met) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Methylmalonic aciduria, cblB type; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- rs374802787
- ClinGen CA6779079
- ClinVar RCV002122178
- ClinVar RCV005601872
- Conflicting interpretations
- Methylmalonic aciduria, cblB type; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Methylmalonic aciduria, cblB type; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)