P106L (p.Pro106Leu) variant of SHANK2 (Q9UPX8)
P106L (p.Pro106Leu) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
P106L (p.Pro106Leu) variant details
- p.Pro106Leu
- 1000Genomes rs545370532
- ExAC rs545370532
- TOPMed rs545370532
- gnomAD rs545370532
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 8.4e-05)