L103P (p.Leu103Pro) variant of SHANK2 (Q9UPX8)
L103P (p.Leu103Pro) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
L103P (p.Leu103Pro) variant details
- p.Leu103Pro
- TOPMed rs1313562822
- gnomAD rs1313562822
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 8.4e-05)