R73L (p.Arg73Leu) variant of SHANK2 (Q9UPX8)
R73L (p.Arg73Leu) 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 0.75 / 1. The record also includes population frequency data.
R73L (p.Arg73Leu) variant details
- p.Arg73Leu
- TOPMed rs1555100977
- gnomAD rs1555100977
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)