A26V (p.Ala26Val) variant of GFAP (Glial fibrillary acidic protein)
A26V (p.Ala26Val) 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 not specified; not provided; 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 and published literature.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- rs139837765
- ClinGen CA8609113
- ClinVar RCV002000806
- ClinVar RCV002579654
- Uncertain significance
- not specified; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 7.48
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (not specified; not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)