P17L (p.Pro17Leu) variant of SLC6A3 (Q01959)
P17L (p.Pro17Leu) 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 0.25 / 1. The record also includes population frequency data and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- rs369923764
- NCI-TCGA Cosmic COSV1043
- ESP rs369923764
- TOPMed rs369923764
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.08
- AlphaMissense 0.11
- MetaLR 0.30
- MetaSVM -0.59
- CADD 21.40
- PolyPhen-2 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available