L122P (p.Leu122Pro) variant of SHANK2 (Q9UPX8)
L122P (p.Leu122Pro) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
L122P (p.Leu122Pro) variant details
- p.Leu122Pro
- Ensembl rs1590930320
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)