R93H (p.Arg93His) variant of SLC25A14 (O95258)
R93H (p.Arg93His) 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.
R93H (p.Arg93His) variant details
- p.Arg93His
- NCI-TCGA Cosmic COSV5441
- cosmic curated COSV54417
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.58
- MetaSVM 0.05
- CADD 25.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available