A41V (p.Ala41Val) variant of SHANK2 (Q9UPX8)
A41V (p.Ala41Val) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
A41V (p.Ala41Val) variant details
- p.Ala41Val
- 1000Genomes rs566259872
- ExAC rs566259872
- TOPMed rs566259872
- gnomAD rs566259872
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 20.90
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the 1KG:ESN population (allele frequency 0.0049)