A65V (p.Ala65Val) variant of SLC6A4 (P31645)
A65V (p.Ala65Val) in SLC6A4 (P31645) 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 0.21 / 1. The record also includes population frequency data and structural context.
A65V (p.Ala65Val) variant details
- p.Ala65Val
- rs140484986
- ESP rs140484986
- ExAC rs140484986
- TOPMed rs140484986
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.23
- MetaSVM -0.91
- CADD 7.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:LAHU population (allele frequency 1)
- Structural context available