L259P (p.Leu259Pro) variant of MMADHC (Q9H3L0)
L259P (p.Leu259Pro) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylmalonic aciduria and homocystinuria type cblD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
L259P (p.Leu259Pro) variant details
- p.Leu259Pro
- rs118204044
- ClinGen CA114486
- ClinVar RCV000000797
- ClinVar RCV003147271
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria and homocystinuria type cblD
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.88
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria and homocystinuria type cblD)
- EBI: Pathogenic (in HMAD)
- UniProt: Pathogenic (in HMAD)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. (PMID 15292234)
- Cited in: Gene identification for the cblD defect of vitamin B12 metabolism. (PMID 18385497)