D65V (p.Asp65Val) variant of SHANK2 (Q9UPX8)
D65V (p.Asp65Val) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
D65V (p.Asp65Val) variant details
- p.Asp65Val
- TOPMed rs1555106839
- gnomAD rs1555106839
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)