K116E (p.Lys116Glu) variant of MMAB (Q96EY8)
K116E (p.Lys116Glu) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K116E (p.Lys116Glu) variant details
- p.Lys116Glu
- rs551289581
- ClinGen CA6778956
- ClinVar RCV000485504
- ClinVar RCV001828509
- Uncertain significance
- not provided; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.38
- ESM-1b 0.88
- AlphaMissense 0.13
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (not provided; Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)