L12P (p.Leu12Pro) variant of MMAB (Q96EY8)
L12P (p.Leu12Pro) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- rs533819939
- ClinGen CA6779082
- ClinVar RCV001578623
- 1000Genomes rs533819939
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.50
- ESM-1b 0.70
- AlphaMissense 0.08
- CADD 12.40
- PolyPhen-2 0.15
- SIFT 0.02
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)