V465F (p.Val465Phe) variant of CLCN1 (Chloride channel protein 1)
V465F (p.Val465Phe) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Batten-Turner congenital myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
V465F (p.Val465Phe) variant details
- p.Val465Phe
- rs139158852
- ClinGen CA369644393
- ClinVar RCV001837017
- 1000Genomes rs139158852
- Likely pathogenic
- Batten-Turner congenital myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.06
- MetaLR 0.49
- MetaSVM -0.30
- PolyPhen-2 0.01
- SIFT 0.65
- EVE 0.10
- ClinVar: Likely pathogenic (Batten-Turner congenital myopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Myotonia Congenita. (PMID 20301529)