H64P (p.His64Pro) variant of SHANK2 (Q9UPX8)
H64P (p.His64Pro) 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 0.28 / 1. The record also includes population frequency data.
H64P (p.His64Pro) variant details
- p.His64Pro
- 1000Genomes rs200995537
- ESP rs200995537
- ExAC rs200995537
- TOPMed rs200995537
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 19.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.005)