D8V (p.Asp8Val) variant of TSC2 (Tuberin)
D8V (p.Asp8Val) in TSC2 (Tuberin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D8V (p.Asp8Val) variant details
- p.Asp8Val
- ExAC rs761071880
- gnomAD rs761071880
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.52
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available