I72F (p.Ile72Phe) variant of SHANK2 (Q9UPX8)
I72F (p.Ile72Phe) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
I72F (p.Ile72Phe) variant details
- p.Ile72Phe
- 1000Genomes rs568434832
- TOPMed rs568434832
- gnomAD rs568434832
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 22.60
- PolyPhen-2 0.41
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)