V15I (p.Val15Ile) variant of GFAP (Glial fibrillary acidic protein)
V15I (p.Val15Ile) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and published literature.
V15I (p.Val15Ile) variant details
- p.Val15Ile
- rs146698039
- ClinGen CA8609123
- cosmic curated COSV99493
- ClinVar RCV000996566
- Likely benign
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0635
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Likely benign (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)