F90L (p.Phe90Leu) variant of SHANK1 (Q9Y566)
F90L (p.Phe90Leu) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
F90L (p.Phe90Leu) variant details
- p.Phe90Leu
- ExAC rs748338051
- gnomAD rs748338051
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.19
- MetaLR 0.07
- MetaSVM -1.11
- CADD 28.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available