V73I (p.Val73Ile) variant of SLC6A3 (Q01959)
V73I (p.Val73Ile) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Classic dopamine transporter deficiency syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V73I (p.Val73Ile) variant details
- p.Val73Ile
- rs150576860
- ClinGen CA3186455
- ClinVar RCV003136819
- ESP rs150576860
- Uncertain significance
- Classic dopamine transporter deficiency syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.30
- MetaLR 0.38
- MetaSVM -0.30
- CADD 23.50
- PolyPhen-2 0.75
- SIFT 0.23
- ClinVar: Uncertain significance (Classic dopamine transporter deficiency syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: SLC6A3-Related Dopamine Transporter Deficiency Syndrome. (PMID 28749637)