V102I (p.Val102Ile) variant of SLC6A4 (P31645)
V102I (p.Val102Ile) in SLC6A4 (P31645) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V102I (p.Val102Ile) variant details
- p.Val102Ile
- ExAC rs769335893
- TOPMed rs769335893
- gnomAD rs769335893
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.28
- MetaSVM -0.68
- CADD 16.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.015)
- Structural context available