P381S (p.Pro381Ser) variant of CACNA1C (Q13936)
P381S (p.Pro381Ser) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
P381S (p.Pro381Ser) variant details
- p.Pro381Ser
- UniProt VAR 075151
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.88
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- 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)