A39T (p.Ala39Thr) variant of PRRT2 (Q7Z6L0)
A39T (p.Ala39Thr) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- rs1263878099
- ClinGen CA395477338
- ClinVar RCV001034191
- TOPMed rs1263878099
- Likely benign
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.14
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Likely benign (Episodic kinesigenic dyskinesia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available