G25R (p.Gly25Arg) variant of SLC6A4 (P31645)
G25R (p.Gly25Arg) in SLC6A4 (P31645) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Behavior disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- rs199727635
- ClinGen CA8480510
- cosmic curated COSV55565
- ClinVar RCV001126932
- Uncertain significance
- Behavior disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.16
- MetaSVM -0.93
- CADD 17.70
- ClinVar: Uncertain significance (Behavior disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.25)
- Structural context available