I23L (p.Ile23Leu) variant of CACNA1S (Q13698)
I23L (p.Ile23Leu) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
I23L (p.Ile23Leu) variant details
- p.Ile23Leu
- gnomAD rs1202505813
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.11
- CADD 8.81
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available