I33L (p.Ile33Leu) variant of SHANK2 (Q9UPX8)
I33L (p.Ile33Leu) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
I33L (p.Ile33Leu) variant details
- p.Ile33Leu
- gnomAD rs1555106895
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 18.00
- PolyPhen-2 0.02
- SIFT 0.40
- Most common in the South Asian population (allele frequency 1.3e-05)