R66P (p.Arg66Pro) variant of GFAP (Glial fibrillary acidic protein)
R66P (p.Arg66Pro) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
R66P (p.Arg66Pro) variant details
- p.Arg66Pro
- rs797044569
- ClinGen CA16043124
- ClinVar RCV000413147
- Ensembl rs797044569
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.86
- MetaLR 0.93
- MetaSVM 1.11
- PolyPhen-2 0.70
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in ALXDRD)
- UniProt: Likely pathogenic (in ALXDRD)
- Structural context available