V22M (p.Val22Met) variant of SLC6A1 (P30531)
V22M (p.Val22Met) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V22M (p.Val22Met) variant details
- p.Val22Met
- TOPMed rs1697189439
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.19
- CADD 11.00
- PolyPhen-2 0.03
- SIFT 0.32
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available