L27F (p.Leu27Phe) variant of MMAB (Q96EY8)
L27F (p.Leu27Phe) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Inborn genetic diseases; Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L27F (p.Leu27Phe) variant details
- p.Leu27Phe
- rs150895111
- ClinGen CA6779067
- ClinVar RCV000387095
- ClinVar RCV002518922
- Uncertain significance
- not specified; Inborn genetic diseases; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 13.80
- PolyPhen-2 0.22
- SIFT 0.07
- ClinVar: Uncertain significance (not specified; Inborn genetic diseases; Methylmalonic aciduria,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- 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)