A39V (p.Ala39Val) variant of SHANK2 (Q9UPX8)
A39V (p.Ala39Val) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- gnomAD rs1555106884
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- CADD 23.80
- PolyPhen-2 0.32
- SIFT 0.03
- Most common in the South Asian population (allele frequency 7.6e-05)