R29C (p.Arg29Cys) variant of GFAP (Glial fibrillary acidic protein)
R29C (p.Arg29Cys) 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 0.53 / 1. The record also includes population frequency data and published literature.
R29C (p.Arg29Cys) variant details
- p.Arg29Cys
- rs370903792
- ClinGen CA8609112
- ClinVar RCV001727038
- ClinVar RCV004040002
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 23.40
- PolyPhen-2 0.33
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)