A72V (p.Ala72Val) variant of SLC6A4 (P31645)
A72V (p.Ala72Val) in SLC6A4 (P31645) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A72V (p.Ala72Val) variant details
- p.Ala72Val
- TOPMed rs200078896
- gnomAD rs200078896
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.32
- MetaSVM -0.55
- CADD 20.50
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available