L72P (p.Leu72Pro) variant of CACNA1S (Q13698)
L72P (p.Leu72Pro) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
L72P (p.Leu72Pro) variant details
- p.Leu72Pro
- ExAC rs778502465
- gnomAD rs778502465
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.82
- CADD 27.40
- PolyPhen-2 0.65
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available