G23V (p.Gly23Val) variant of SHANK1 (Q9Y566)
G23V (p.Gly23Val) in SHANK1 (Q9Y566) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- TOPMed rs879093481
- gnomAD rs879093481
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.13
- MetaLR 0.04
- MetaSVM -1.09
- CADD 22.70
- PolyPhen-2 0.12
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available