G6R (p.Gly6Arg) variant of SLC25A14 (O95258)
G6R (p.Gly6Arg) 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 0.54 / 1. The record also includes population frequency data and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- NCI-TCGA TCGA novel
- TOPMed rs2033203435
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.47
- MetaLR 0.50
- MetaSVM -0.38
- CADD 29.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available