L10I (p.Leu10Ile) variant of MMAB (Q96EY8)
L10I (p.Leu10Ile) 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 0.24 / 1. The record also includes population frequency data and structural context.
L10I (p.Leu10Ile) variant details
- p.Leu10Ile
- ExAC rs778630670
- TOPMed rs778630670
- gnomAD rs778630670
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 5.85
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available