T50I (p.Thr50Ile) variant of SLC8A1 (Sodium/calcium exchanger 1)
T50I (p.Thr50Ile) 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 0.36 / 1. The record also includes population frequency data and structural context.
T50I (p.Thr50Ile) variant details
- p.Thr50Ile
- ExAC rs762666688
- TOPMed rs762666688
- gnomAD rs762666688
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.10
- CADD 23.50
- PolyPhen-2 0.06
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available