R104C (p.Arg104Cys) variant of SLC6A4 (P31645)
R104C (p.Arg104Cys) in SLC6A4 (P31645) 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 0.87 / 1. The record also includes population frequency data and structural context.
R104C (p.Arg104Cys) variant details
- p.Arg104Cys
- rs200953188
- TOPMed rs200953188
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.85
- MetaSVM 0.93
- CADD 31.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:DRUZE population (allele frequency 0.015)
- Structural context available