H14L (p.His14Leu) variant of MMUT (P22033)
H14L (p.His14Leu) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
H14L (p.His14Leu) variant details
- p.His14Leu
- rs886061561
- ClinGen CA10627106
- ClinVar RCV000670305
- TOPMed rs886061561
- Uncertain significance
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.27
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)