G49C (p.Gly49Cys) variant of SHANK1 (Q9Y566)
G49C (p.Gly49Cys) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G49C (p.Gly49Cys) variant details
- p.Gly49Cys
- ExAC rs752720674
- TOPMed rs752720674
- gnomAD rs752720674
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.20
- MetaLR 0.09
- MetaSVM -0.93
- CADD 24.70
- PolyPhen-2 0.61
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available