T12I (p.Thr12Ile) variant of SLC8A1 (Sodium/calcium exchanger 1)
T12I (p.Thr12Ile) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
T12I (p.Thr12Ile) variant details
- p.Thr12Ile
- ESP rs142661656
- ExAC rs142661656
- TOPMed rs142661656
- gnomAD rs142661656
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.03
- CADD 7.05
- PolyPhen-2 0.08
- SIFT 0.39
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available