T46A (p.Thr46Ala) variant of SLC8A1 (Sodium/calcium exchanger 1)
T46A (p.Thr46Ala) 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 0.24 / 1. The record also includes population frequency data and structural context.
T46A (p.Thr46Ala) variant details
- p.Thr46Ala
- NCI-TCGA Cosmic COSV6047
- cosmic curated COSV60472
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.07
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available