R13G (p.Arg13Gly) variant of SHANK1 (Q9Y566)
R13G (p.Arg13Gly) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R13G (p.Arg13Gly) variant details
- p.Arg13Gly
- ExAC rs767848654
- TOPMed rs767848654
- gnomAD rs767848654
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.04
- CADD 22.80
- PolyPhen-2 0.08
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available