T43N (p.Thr43Asn) variant of SLC6A3 (Q01959)
T43N (p.Thr43Asn) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T43N (p.Thr43Asn) variant details
- p.Thr43Asn
- gnomAD rs1469151924
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.29
- MetaLR 0.35
- MetaSVM -0.36
- CADD 22.50
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available