V96I (p.Val96Ile) variant of CACNA1S (Q13698)
V96I (p.Val96Ile) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V96I (p.Val96Ile) variant details
- p.Val96Ile
- cosmic curated COSV10889
- Ensembl rs2102167629
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.25
- CADD 15.30
- PolyPhen-2 0.04
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available