A9V (p.Ala9Val) variant of SLC6A1 (P30531)
A9V (p.Ala9Val) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- gnomAD 3-11017237-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.24
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available