L19V (p.Leu19Val) variant of SLC8A1 (Sodium/calcium exchanger 1)
L19V (p.Leu19Val) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- ExAC rs746239822
- gnomAD rs746239822
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.04
- CADD 15.50
- PolyPhen-2 0.04
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available