S44N (p.Ser44Asn) variant of SLC6A3 (Q01959)
S44N (p.Ser44Asn) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S44N (p.Ser44Asn) variant details
- p.Ser44Asn
- ExAC rs768211541
- TOPMed rs768211541
- gnomAD rs768211541
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -1.00
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available