S643F (p.Ser643Phe) variant of CACNA1C (Q13936)
S643F (p.Ser643Phe) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and published literature.
S643F (p.Ser643Phe) variant details
- p.Ser643Phe
- UniProt VAR 087764
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.91
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in TS)
- UniProt: Pathogenic (in TS)
- Population evidence available
- Cited in: A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and… (PMID 30023270)
- Cited in: Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. (PMID 15454078)