Q35R (p.Gln35Arg) variant of TSC2 (Tuberin)
Q35R (p.Gln35Arg) in TSC2 (Tuberin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q35R (p.Gln35Arg) variant details
- p.Gln35Arg
- gnomAD 16-2048719-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.17
- CADD 23.80
- PolyPhen-2 0.89
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available