A23V (p.Ala23Val) variant of SLC6A3 (Q01959)
A23V (p.Ala23Val) in SLC6A3 (Q01959) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- NCI-TCGA Cosmic COSV5436
- TOPMed rs1579729551
- gnomAD rs1579729551
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.14
- MetaLR 0.27
- MetaSVM -0.58
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available