T22I (p.Thr22Ile) variant of SLC8A1 (Sodium/calcium exchanger 1)
T22I (p.Thr22Ile) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
T22I (p.Thr22Ile) variant details
- p.Thr22Ile
- 1000Genomes rs143231281
- ESP rs143231281
- ExAC rs143231281
- TOPMed rs143231281
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.07
- CADD 4.54
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available