R11P (p.Arg11Pro) variant of GFAP (Glial fibrillary acidic protein)
R11P (p.Arg11Pro) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
R11P (p.Arg11Pro) variant details
- p.Arg11Pro
- rs780481913
- ClinGen CA399849223
- ClinVar RCV001914113
- ExAC rs780481913
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 23.40
- PolyPhen-2 0.31
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)