S2G (p.Ser2Gly) variant of SLC6A3 (Q01959)
S2G (p.Ser2Gly) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
S2G (p.Ser2Gly) variant details
- p.Ser2Gly
- TOPMed rs1005337464
- gnomAD rs1005337464
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.07
- MetaLR 0.25
- MetaSVM -0.80
- CADD 19.90
- PolyPhen-2 0.04
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available