P2L (p.Pro2Leu) variant of SHANK2 (Q9UPX8)
P2L (p.Pro2Leu) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of SHANK2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- rs115978536
- ClinGen CA6162194
- ClinVar RCV004540921
- 1000Genomes rs115978536
- Benign
- SHANK2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 24.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Benign (SHANK2-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ASW population (allele frequency 0.059)