L35P (p.Leu35Pro) variant of CACNB2 (Q08289)
L35P (p.Leu35Pro) in CACNB2 (Q08289) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Brugada syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L35P (p.Leu35Pro) variant details
- p.Leu35Pro
- rs373263114
- ClinGen CA236641
- ClinVar RCV000171621
- ClinVar RCV001803145
- Uncertain significance
- not provided; Brugada syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.56
- CADD 22.80
- PolyPhen-2 0.28
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Brugada syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.0099)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)