V30L (p.Val30Leu) variant of SLC8A1 (Sodium/calcium exchanger 1)
V30L (p.Val30Leu) in SLC8A1 (Sodium/calcium exchanger 1) 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.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- ESP rs138232364
- TOPMed rs138232364
- gnomAD rs138232364
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.05
- CADD 3.30
- PolyPhen-2 0.00
- SIFT 0.97
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available