M1V (p.Met1Val) variant of KCNA1 (Q09470)
M1V (p.Met1Val) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Episodic ataxia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs776861490
- ClinGen CA6399322
- ClinVar RCV001113418
- Benign
- Episodic ataxia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- MutPred 0.95
- ClinVar: Benign (Episodic ataxia type 1)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- 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)