T144A (p.Thr144Ala) variant of MMAB (Q96EY8)
T144A (p.Thr144Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T144A (p.Thr144Ala) variant details
- p.Thr144Ala
- rs561864335
- ClinGen CA243448346
- ClinVar RCV002606595
- 1000Genomes rs561864335
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)