G34S (p.Gly34Ser) variant of SHANK1 (Q9Y566)
G34S (p.Gly34Ser) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G34S (p.Gly34Ser) variant details
- p.Gly34Ser
- TOPMed rs1429180159
- gnomAD rs1429180159
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.00
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available