P122L (p.Pro122Leu) variant of SHANK1 (Q9Y566)
P122L (p.Pro122Leu) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P122L (p.Pro122Leu) variant details
- p.Pro122Leu
- ExAC rs767347935
- TOPMed rs767347935
- gnomAD rs767347935
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.28
- MetaLR 0.12
- MetaSVM -0.90
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available