I32M (p.Ile32Met) variant of SLC6A3 (Q01959)
I32M (p.Ile32Met) in SLC6A3 (Q01959) 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.
I32M (p.Ile32Met) variant details
- p.Ile32Met
- ESP rs369778907
- TOPMed rs369778907
- gnomAD rs369778907
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.07
- AlphaMissense 0.85
- MetaLR 0.84
- MetaSVM 0.94
- CADD 19.10
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available