P30S (p.Pro30Ser) variant of SHANK1 (Q9Y566)
P30S (p.Pro30Ser) 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 0.30 / 1. The record also includes population frequency data and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- NCI-TCGA Cosmic COSV5324
- cosmic curated COSV53244
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.05
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available