V8G (p.Val8Gly) variant of SLC6A1 (P30531)
V8G (p.Val8Gly) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V8G (p.Val8Gly) variant details
- p.Val8Gly
- cosmic curated COSV55115
- Ensembl rs1574890660
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.11
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available