S63T (p.Ser63Thr) variant of SHANK1 (Q9Y566)
S63T (p.Ser63Thr) in SHANK1 (Q9Y566) 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 0.24 / 1. The record also includes population frequency data and structural context.
S63T (p.Ser63Thr) variant details
- p.Ser63Thr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.05
- CADD 20.30
- PolyPhen-2 0.02
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available