G54R (p.Gly54Arg) variant of SLC6A4 (P31645)
G54R (p.Gly54Arg) in SLC6A4 (P31645) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- TOPMed rs1906770923
- gnomAD rs1906770923
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.13
- MetaSVM -0.93
- CADD 13.70
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available