Q58L (p.Gln58Leu) variant of SLC6A3 (Q01959)
Q58L (p.Gln58Leu) in SLC6A3 (Q01959) is a missense change. 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.
Q58L (p.Gln58Leu) variant details
- p.Gln58Leu
- TOPMed rs1202741725
- gnomAD rs1202741725
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.09
- MetaLR 0.14
- MetaSVM -1.02
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available