P216A (p.Pro216Ala) variant of SHANK3 (Q9BYB0)
P216A (p.Pro216Ala) in SHANK3 (Q9BYB0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
P216A (p.Pro216Ala) variant details
- p.Pro216Ala
- rs397514705
- ClinGen CA263235
- ClinVar RCV000043655
- ClinVar RCV001804766
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 0.85
- MetaLR 0.40
- MetaSVM -0.09
- MutPred 0.37
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in PHMDS)
- UniProt: Pathogenic (in PHMDS)
- Structural context available
- Cited in: Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. (PMID 22892527)
- Cited in: Phelan-McDermid Syndrome-SHANK3 Related. (PMID 20301377)