L40V (p.Leu40Val) variant of CACNA1S (Q13698)
L40V (p.Leu40Val) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- TOPMed rs1663146474
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.07
- CADD 9.05
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available