S17F (p.Ser17Phe) variant of SHANK2 (Q9UPX8)
S17F (p.Ser17Phe) 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 0.74 / 1. The record also includes population frequency data.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- NCI-TCGA TCGA novel
- Ensembl rs1952673100
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)