A13V (p.Ala13Val) variant of SHANK2 (Q9UPX8)
A13V (p.Ala13Val) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- TOPMed rs1952673400
- gnomAD rs1952673400
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.08
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)