N22Y (p.Asn22Tyr) variant of SLC6A3 (Q01959)
N22Y (p.Asn22Tyr) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N22Y (p.Asn22Tyr) variant details
- p.Asn22Tyr
- TOPMed rs1359130746
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.37
- MetaLR 0.34
- MetaSVM -0.34
- CADD 20.90
- PolyPhen-2 0.28
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available