P48H (p.Pro48His) variant of SHANK1 (Q9Y566)
P48H (p.Pro48His) in SHANK1 (Q9Y566) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
P48H (p.Pro48His) variant details
- p.Pro48His
- NCI-TCGA Cosmic COSV9952
- cosmic curated COSV99521
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.07
- MetaSVM -1.03
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available