G22W (p.Gly22Trp) variant of SHANK1 (Q9Y566)
G22W (p.Gly22Trp) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G22W (p.Gly22Trp) variant details
- p.Gly22Trp
- ExAC rs746931414
- gnomAD rs746931414
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.23
- MetaLR 0.15
- MetaSVM -0.68
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.7e-05)
- Structural context available