F15V (p.Phe15Val) variant of TSC2 (Tuberin)
F15V (p.Phe15Val) in TSC2 (Tuberin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
F15V (p.Phe15Val) variant details
- p.Phe15Val
- Ensembl rs2150970842
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.66
- CADD 24.60
- PolyPhen-2 0.94
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available