L122P (p.Leu122Pro) variant of MMAA (Q8IVH4)
L122P (p.Leu122Pro) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L122P (p.Leu122Pro) variant details
- p.Leu122Pro
- rs760875006
- ClinGen CA3095159
- ClinVar RCV001942196
- ExAC rs760875006
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria, cblA type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)