F83L (p.Phe83Leu) variant of MMAB (Q96EY8)
F83L (p.Phe83Leu) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
F83L (p.Phe83Leu) variant details
- p.Phe83Leu
- rs571555515
- ClinGen CA6779000
- ClinVar RCV001246675
- 1000Genomes rs571555515
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 22.90
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)