P64L (p.Pro64Leu) variant of MMUT (P22033)
P64L (p.Pro64Leu) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Methylmalonic aciduria due to methylmalonyl-CoA mut. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
P64L (p.Pro64Leu) variant details
- p.Pro64Leu
- rs575038087
- ClinGen CA3847168
- ClinVar RCV000626275
- ClinVar RCV002529786
- Uncertain significance
- not specified; not provided; Methylmalonic aciduria due to methylmalonyl-CoA mut
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.78
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.08
- ClinVar: Uncertain significance (not specified; not provided; Methylmalonic aciduria due to methy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)