G43A (p.Gly43Ala) variant of SLC8A1 (Sodium/calcium exchanger 1)
G43A (p.Gly43Ala) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
G43A (p.Gly43Ala) variant details
- p.Gly43Ala
- ExAC rs751120817
- gnomAD rs751120817
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.01
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available