T37A (p.Thr37Ala) variant of SLC8A1 (Sodium/calcium exchanger 1)
T37A (p.Thr37Ala) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
T37A (p.Thr37Ala) variant details
- p.Thr37Ala
- ExAC rs113726948
- gnomAD rs113726948
- Missense
- Variant Prioritization Score for Impact Estimate 0.0819
- REVEL 0.04
- CADD 8.74
- PolyPhen-2 0.00
- SIFT 0.96
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available