V64F (p.Val64Phe) variant of SHANK1 (Q9Y566)
V64F (p.Val64Phe) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V64F (p.Val64Phe) variant details
- p.Val64Phe
- ExAC rs774877899
- TOPMed rs774877899
- gnomAD rs774877899
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.21
- MetaLR 0.15
- MetaSVM -0.94
- CADD 23.60
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available