P69L (p.Pro69Leu) variant of SLC8A1 (Sodium/calcium exchanger 1)
P69L (p.Pro69Leu) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- Ensembl rs1576429924
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.36
- CADD 22.60
- PolyPhen-2 0.99
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available