V8M (p.Val8Met) variant of SLC6A1 (P30531)
V8M (p.Val8Met) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- gnomAD 3-11017233-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.12
- CADD 20.00
- PolyPhen-2 0.20
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available