V50L (p.Val50Leu) variant of SLC6A4 (P31645)
V50L (p.Val50Leu) in SLC6A4 (P31645) is a missense change. 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.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- TOPMed rs202152288
- gnomAD rs202152288
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.23
- MetaSVM -0.71
- CADD 16.80
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available