E112K (p.Glu112Lys) variant of MMAB (Q96EY8)
E112K (p.Glu112Lys) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E112K (p.Glu112Lys) variant details
- p.Glu112Lys
- rs376219481
- ClinGen CA6778957
- cosmic curated COSV57169
- ClinVar RCV002803459
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.07
- MetaLR 0.71
- MetaSVM -0.19
- CADD 14.80
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)