T2R (p.Thr2Arg) variant of KCNA1 (Q09470)
T2R (p.Thr2Arg) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Episodic ataxia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
T2R (p.Thr2Arg) variant details
- p.Thr2Arg
- ExAC rs762038042
- TOPMed rs762038042
- gnomAD rs762038042
- Uncertain significance
- Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.72
- CADD 23.60
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (Episodic ataxia type 1)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available