T12S (p.Thr12Ser) variant of SLC8A1 (Sodium/calcium exchanger 1)
T12S (p.Thr12Ser) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
T12S (p.Thr12Ser) variant details
- p.Thr12Ser
- rs142661656
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10024
- ESP rs142661656
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0907
- REVEL 0.02
- CADD 5.02
- PolyPhen-2 0.01
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available