S93C (p.Ser93Cys) variant of SLC8A1 (Sodium/calcium exchanger 1)
S93C (p.Ser93Cys) 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 0.76 / 1. The record also includes population frequency data and structural context.
S93C (p.Ser93Cys) variant details
- p.Ser93Cys
- NCI-TCGA Cosmic COSV6048
- NCI-TCGA Cosmic COSV6049
- cosmic curated COSV60493
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.74
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available