R136Q (p.Arg136Gln) variant of MMAB (Q96EY8)
R136Q (p.Arg136Gln) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R136Q (p.Arg136Gln) variant details
- p.Arg136Gln
- rs796051994
- ClinVar RCV005006781
- ClinVar RCV005377682
- TOPMed rs796051994
- Uncertain significance
- Inborn genetic diseases; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases; Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)