P44A (p.Pro44Ala) variant of GFAP (Glial fibrillary acidic protein)
P44A (p.Pro44Ala) 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 0.32 / 1. The record also includes population frequency data and published literature.
P44A (p.Pro44Ala) variant details
- p.Pro44Ala
- rs144543354
- ClinGen CA8609095
- ClinVar RCV002204130
- ClinVar RCV003089093
- Likely benign
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Likely benign (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)