D60A (p.Asp60Ala) variant of PRRT2 (Q7Z6L0)
D60A (p.Asp60Ala) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic kinesigenic dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D60A (p.Asp60Ala) variant details
- p.Asp60Ala
- rs772163627
- ClinGen CA7994487
- ClinVar RCV001887862
- ExAC rs772163627
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.11
- CADD 20.30
- PolyPhen-2 0.07
- SIFT 0.10
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available