A148V (p.Ala148Val) variant of SHANK2 (Q9UPX8)
A148V (p.Ala148Val) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
A148V (p.Ala148Val) variant details
- p.Ala148Val
- gnomAD rs1951922927
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)