A135T (p.Ala135Thr) variant of MMAB (Q96EY8)
A135T (p.Ala135Thr) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A135T (p.Ala135Thr) variant details
- p.Ala135Thr
- rs35648932
- ClinGen CA347906
- cosmic curated COSV10507
- ClinVar RCV000203394
- Conflicting interpretations
- not specified; not provided; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 22.80
- PolyPhen-2 0.40
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Methylmalonic aciduria, cblB type)
- EBI: Pathogenic (in MACB)
- UniProt: Pathogenic (in MACB)
- Most common in the 1KG:MSL population (allele frequency 0.025)
- Structural context available
- Cited in: Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic… (PMID 12471062)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)