S23L (p.Ser23Leu) variant of SHANK2 (Q9UPX8)
S23L (p.Ser23Leu) in SHANK2 (Q9UPX8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
S23L (p.Ser23Leu) variant details
- p.Ser23Leu
- rs782481305
- NCI-TCGA Cosmic COSV5835
- cosmic curated COSV58353
- ExAC rs782481305
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 25.30
- PolyPhen-2 0.46
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00041)