S13Y (p.Ser13Tyr) variant of SLC6A3 (Q01959)
S13Y (p.Ser13Tyr) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S13Y (p.Ser13Tyr) variant details
- p.Ser13Tyr
- TOPMed rs1488651701
- gnomAD rs1488651701
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.34
- MetaLR 0.49
- MetaSVM 0.00
- CADD 24.90
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available