T62A (p.Thr62Ala) variant of MMAB (Q96EY8)
T62A (p.Thr62Ala) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblB type; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
T62A (p.Thr62Ala) variant details
- p.Thr62Ala
- rs759809454
- ClinGen CA6779026
- ClinVar RCV001277394
- ClinVar RCV004951439
- Uncertain significance
- Methylmalonic aciduria, cblB type; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 26.60
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type; Inborn genetic diseases)
- 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)