T70P (p.Thr70Pro) variant of MMAA (Q8IVH4)
T70P (p.Thr70Pro) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T70P (p.Thr70Pro) variant details
- p.Thr70Pro
- rs1328208245
- ClinGen CA358352179
- ClinVar RCV001278251
- gnomAD rs1328208245
- Uncertain significance
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.50
- PolyPhen-2 0.18
- SIFT 0.06
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblA type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)