G39V (p.Gly39Val) variant of SHANK1 (Q9Y566)
G39V (p.Gly39Val) 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.
G39V (p.Gly39Val) variant details
- p.Gly39Val
- ExAC rs761557772
- gnomAD rs761557772
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.21
- MetaLR 0.10
- MetaSVM -1.01
- CADD 24.00
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available