V133F (p.Val133Phe) variant of SHANK2 (Q9UPX8)
V133F (p.Val133Phe) in SHANK2 (Q9UPX8) 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 0.59 / 1. The record also includes population frequency data.
V133F (p.Val133Phe) variant details
- p.Val133Phe
- TOPMed rs1463147374
- gnomAD rs1463147374
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 16.60
- PolyPhen-2 0.36
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)