N22S (p.Asn22Ser) variant of SLC6A3 (Q01959)
N22S (p.Asn22Ser) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N22S (p.Asn22Ser) variant details
- p.Asn22Ser
- ExAC rs779782912
- gnomAD rs779782912
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.15
- MetaLR 0.25
- MetaSVM -0.80
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available