M1T (p.Met1Thr) variant of KCNA1 (Q09470)
M1T (p.Met1Thr) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, 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 0.96 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1947350138
- ClinGen CA383453586
- ClinVar RCV002003026
- Uncertain significance
- Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- MutPred 0.96
- ClinVar: Uncertain significance (Episodic ataxia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)