G5D (p.Gly5Asp) variant of SLC6A1 (P30531)
G5D (p.Gly5Asp) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- cosmic curated COSV55114
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.24
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available