N38S (p.Asn38Ser) variant of SLC6A3 (Q01959)
N38S (p.Asn38Ser) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
N38S (p.Asn38Ser) variant details
- p.Asn38Ser
- ExAC rs759916093
- TOPMed rs759916093
- gnomAD rs759916093
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.22
- MetaLR 0.51
- MetaSVM 0.02
- CADD 23.00
- PolyPhen-2 0.94
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available