I130F (p.Ile130Phe) variant of SLC6A4 (P31645)
I130F (p.Ile130Phe) in SLC6A4 (P31645) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
I130F (p.Ile130Phe) variant details
- p.Ile130Phe
- ExAC rs756254987
- gnomAD rs756254987
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.62
- MetaSVM 0.33
- CADD 25.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available