I304T (p.Ile304Thr) variant of CACNA1C (Q13936)
I304T (p.Ile304Thr) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Timothy syndrome; Neurodevelopmental disorder with hypotonia, language delay, an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and published literature.
I304T (p.Ile304Thr) variant details
- p.Ile304Thr
- UniProt VAR 075150
- Conflicting interpretations
- Timothy syndrome; Neurodevelopmental disorder with hypotonia, language delay, an
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.26
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.48
- ClinVar: Conflicting classifications of pathogenicity (Timothy syndrome; Neurodevelopmental disorder with hypotonia, la)
- UniProt: Conflicting interpretations
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- Cited in: Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. (PMID 25633834)