Y142H (p.Tyr142His) variant of MMAB (Q96EY8)
Y142H (p.Tyr142His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Y142H (p.Tyr142His) variant details
- p.Tyr142His
- rs886198506
- ClinGen CA243448350
- ClinVar RCV000792770
- ClinVar RCV004692245
- Uncertain significance
- Methylmalonic aciduria, cblB type; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.16
- ESM-1b 0.15
- AlphaMissense 0.08
- CADD 8.33
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)