Q41L (p.Gln41Leu) variant of CACNA1A (O00555)
Q41L (p.Gln41Leu) in CACNA1A (O00555) 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 0.42 / 1. The record also includes population frequency data and structural context.
Q41L (p.Gln41Leu) variant details
- p.Gln41Leu
- ExAC rs751376977
- TOPMed rs751376977
- gnomAD rs751376977
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.36
- MetaLR 0.68
- MetaSVM -0.10
- CADD 23.00
- PolyPhen-2 0.28
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available