A23D (p.Ala23Asp) variant of SLC6A3 (Q01959)
A23D (p.Ala23Asp) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A23D (p.Ala23Asp) variant details
- p.Ala23Asp
- TOPMed rs1579729551
- gnomAD rs1579729551
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.20
- MetaLR 0.29
- MetaSVM -0.60
- CADD 18.40
- PolyPhen-2 0.10
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available