G305A (p.Gly305Ala) variant of PRRT2 (Q7Z6L0)
G305A (p.Gly305Ala) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
G305A (p.Gly305Ala) variant details
- p.Gly305Ala
- rs1220798796
- ClinGen CA395480575
- ClinVar RCV001372496
- gnomAD rs1220798796
- Likely pathogenic
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.47
- MetaLR 0.80
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.38
- ClinVar: Likely pathogenic (Episodic kinesigenic dyskinesia)
- EBI: Likely pathogenic (in EKD1)
- UniProt: Likely pathogenic (in EKD1)
- Structural context available