R93C (p.Arg93Cys) variant of SLC25A14 (O95258)
R93C (p.Arg93Cys) in SLC25A14 (O95258) 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 0.62 / 1. The record also includes population frequency data and structural context.
R93C (p.Arg93Cys) variant details
- p.Arg93Cys
- rs143550393
- NCI-TCGA Cosmic COSV5441
- cosmic curated COSV54418
- ESP rs143550393
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.61
- MetaSVM 0.22
- CADD 24.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available