A13S (p.Ala13Ser) variant of SHANK2 (Q9UPX8)
A13S (p.Ala13Ser) 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 0.72 / 1. The record also includes population frequency data.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- NCI-TCGA Cosmic COSV5834
- cosmic curated COSV58345
- Ensembl rs1952673460
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)