Q35R (p.Gln35Arg) variant of SLC6A1 (P30531)
Q35R (p.Gln35Arg) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q35R (p.Gln35Arg) variant details
- p.Gln35Arg
- gnomAD 3-11017315-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.15
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available