L6V (p.Leu6Val) variant of MMAB (Q96EY8)
L6V (p.Leu6Val) 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 0.15 / 1. The record also includes population frequency data and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- gnomAD rs1190176115
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.14
- ESM-1b 0.21
- AlphaMissense 0.07
- CADD 5.51
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available