S8T (p.Ser8Thr) variant of SLC8A1 (Sodium/calcium exchanger 1)
S8T (p.Ser8Thr) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.07 / 1. The record also includes population frequency data and structural context.
S8T (p.Ser8Thr) variant details
- p.Ser8Thr
- rs199547343
- ClinGen CA1627813
- ClinVar RCV004222573
- 1000Genomes rs199547343
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0656
- REVEL 0.06
- CADD 1.60
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MIAO population (allele frequency 0.05)
- Structural context available