M74I (p.Met74Ile) variant of GFAP (Glial fibrillary acidic protein)
M74I (p.Met74Ile) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
M74I (p.Met74Ile) variant details
- p.Met74Ile
- rs1307573872
- ClinGen CA399848739
- ClinVar RCV003571827
- ClinVar RCV005353206
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance (in ALXDRD)
- UniProt: Uncertain significance (in ALXDRD)
- Most common in the East Asian population (allele frequency 0.00015)
- 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)