M100L (p.Met100Leu) variant of SLC8A1 (Sodium/calcium exchanger 1)
M100L (p.Met100Leu) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
M100L (p.Met100Leu) variant details
- p.Met100Leu
- ExAC rs779494411
- TOPMed rs779494411
- gnomAD rs779494411
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.50
- CADD 25.90
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available