I130S (p.Ile130Ser) variant of SLC6A4 (P31645)
I130S (p.Ile130Ser) 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 0.86 / 1. The record also includes structural context.
I130S (p.Ile130Ser) variant details
- p.Ile130Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.72
- MetaSVM 0.67
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available