S2N (p.Ser2Asn) variant of SLC6A3 (Q01959)
S2N (p.Ser2Asn) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- ExAC rs769414053
- gnomAD rs769414053
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.05
- MetaLR 0.19
- MetaSVM -0.93
- CADD 16.60
- SIFT 0.28
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available