M456I (p.Met456Ile) variant of CACNA1C (Q13936)
M456I (p.Met456Ile) in CACNA1C (Q13936) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LQT8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and published literature.
M456I (p.Met456Ile) variant details
- p.Met456Ile
- UniProt VAR 075152
- Uncertain significance
- in LQT8
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.22
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.29
- EBI: Variant of uncertain significance (in LQT8)
- UniProt: Uncertain significance (in LQT8)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. (PMID 24728418)
- Cited in: Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C… (PMID 23677916)