S71I (p.Ser71Ile) variant of SHANK1 (Q9Y566)
S71I (p.Ser71Ile) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S71I (p.Ser71Ile) variant details
- p.Ser71Ile
- gnomAD rs1207754858
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.39
- MetaLR 0.14
- MetaSVM -0.82
- CADD 25.30
- PolyPhen-2 0.72
- SIFT 0.00
- Population evidence available
- Structural context available