E113D (p.Glu113Asp) variant of MMAB (Q96EY8)
E113D (p.Glu113Asp) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E113D (p.Glu113Asp) variant details
- p.Glu113Asp
- rs2136203868
- ClinGen CA386638589
- ClinVar RCV001362199
- Ensembl rs2136203868
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.38
- CADD 18.70
- PolyPhen-2 0.04
- SIFT 0.08
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)