A46P (p.Ala46Pro) variant of MMADHC (Q9H3L0)
A46P (p.Ala46Pro) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria and homocystinuria type cblD; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A46P (p.Ala46Pro) variant details
- p.Ala46Pro
- rs749521854
- ClinGen CA1902496
- ClinVar RCV000986829
- ClinVar RCV005367652
- Uncertain significance
- Methylmalonic aciduria and homocystinuria type cblD; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.23
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Methylmalonic aciduria and homocystinuria type cblD; Inborn gene)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)