H64R (p.His64Arg) variant of SHANK2 (Q9UPX8)
H64R (p.His64Arg) 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 0.29 / 1. The record also includes population frequency data.
H64R (p.His64Arg) variant details
- p.His64Arg
- 1000Genomes rs200995537
- ESP rs200995537
- ExAC rs200995537
- TOPMed rs200995537
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00016)