G56A (p.Gly56Ala) variant of SLC6A4 (P31645)
G56A (p.Gly56Ala) in SLC6A4 (P31645) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G56A (p.Gly56Ala) variant details
- p.Gly56Ala
- rs6355
- UniProt VAR 014181
- 1000Genomes rs6355
- ESP rs6355
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.06
- CADD 7.49
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)
- Cited in: Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive… (PMID 15995945)