F235L (p.Phe235Leu) variant of ATP1A3 (P13637)
F235L (p.Phe235Leu) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Developmental and epileptic encephalopathy 99; Cerebellar ataxia-areflexia-pes c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
F235L (p.Phe235Leu) variant details
- p.Phe235Leu
- rs782230953
- ClinGen CA406053346
- ClinVar RCV002260434
- ClinVar RCV002260435
- Benign
- Developmental and epileptic encephalopathy 99; Cerebellar ataxia-areflexia-pes c
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.43
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Benign (Developmental and epileptic encephalopathy 99; Cerebellar ataxia)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)