L9V (p.Leu9Val) variant of SLC8A1 (Sodium/calcium exchanger 1)
L9V (p.Leu9Val) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- ExAC rs773071951
- TOPMed rs773071951
- gnomAD rs773071951
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.08
- CADD 13.20
- PolyPhen-2 0.04
- SIFT 0.21
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available