G72A (p.Gly72Ala) variant of SLC8A1 (Sodium/calcium exchanger 1)
G72A (p.Gly72Ala) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G72A (p.Gly72Ala) variant details
- p.Gly72Ala
- ExAC rs772335407
- TOPMed rs772335407
- gnomAD rs772335407
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.30
- CADD 20.80
- PolyPhen-2 0.99
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available