L90I (p.Leu90Ile) variant of SLC8A1 (Sodium/calcium exchanger 1)
L90I (p.Leu90Ile) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L90I (p.Leu90Ile) variant details
- p.Leu90Ile
- Ensembl rs752927856
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.21
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available