P87L (p.Pro87Leu) variant of SLC6A3 (Q01959)
P87L (p.Pro87Leu) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P87L (p.Pro87Leu) variant details
- p.Pro87Leu
- TOPMed rs1390131036
- gnomAD rs1390131036
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.91
- MetaLR 0.93
- MetaSVM 1.09
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available