P33T (p.Pro33Thr) variant of SHANK1 (Q9Y566)
P33T (p.Pro33Thr) 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 0.29 / 1. The record also includes population frequency data and structural context.
P33T (p.Pro33Thr) variant details
- p.Pro33Thr
- NCI-TCGA Cosmic COSV9951
- cosmic curated COSV99519
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.04
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available