I299N (p.Ile299Asn) variant of GBA1 (P04062)
I299N (p.Ile299Asn) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Parkinson disease, late-onset. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
I299N (p.Ile299Asn) variant details
- p.Ile299Asn
- rs794727908
- ClinGen CA342719496
- ClinVar RCV003225714
- Likely pathogenic
- Parkinson disease, late-onset
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.64
- MetaLR 0.98
- MetaSVM 1.10
- PolyPhen-2 0.84
- SIFT 0.00
- EVE 0.51
- ClinVar: Likely pathogenic (Parkinson disease, late-onset)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: Gaucher Disease. (PMID 20301446)