S12C (p.Ser12Cys) variant of SLC6A3 (Q01959)
S12C (p.Ser12Cys) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S12C (p.Ser12Cys) variant details
- p.Ser12Cys
- TOPMed rs1560929056
- gnomAD rs1560929056
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.33
- MetaLR 0.45
- MetaSVM -0.03
- CADD 24.90
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available