I157V (p.Ile157Val) variant of SLC6A4 (P31645)
I157V (p.Ile157Val) in SLC6A4 (P31645) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Behavior disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I157V (p.Ile157Val) variant details
- p.Ile157Val
- rs145643221
- ClinGen CA8480422
- ClinVar RCV001124258
- ESP rs145643221
- Uncertain significance
- Behavior disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.44
- MetaSVM -0.23
- CADD 23.30
- ClinVar: Uncertain significance (Behavior disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.55)
- Structural context available