K106E (p.Lys106Glu) variant of MMAB (Q96EY8)
K106E (p.Lys106Glu) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K106E (p.Lys106Glu) variant details
- p.Lys106Glu
- rs765917146
- ClinGen CA6778961
- ClinVar RCV000642154
- ClinVar RCV004957938
- Uncertain significance
- Inborn genetic diseases; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Uncertain significance (Inborn genetic diseases; Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)