I72V (p.Ile72Val) variant of SHANK2 (Q9UPX8)
I72V (p.Ile72Val) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
I72V (p.Ile72Val) variant details
- p.Ile72Val
- cosmic curated COSV10063
- 1000Genomes rs568434832
- TOPMed rs568434832
- gnomAD rs568434832
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 20.50
- PolyPhen-2 0.09
- SIFT 0.02
- Most common in the 1KG:BEB population (allele frequency 0.0051)