I130V (p.Ile130Val) variant of SLC6A4 (P31645)
I130V (p.Ile130Val) in SLC6A4 (P31645) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I130V (p.Ile130Val) variant details
- p.Ile130Val
- ExAC rs756254987
- gnomAD rs756254987
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.28
- MetaSVM -0.71
- CADD 18.30
- Most common in the 1KG:MSL population (allele frequency 0.19)
- Structural context available