A299T (p.Ala299Thr) variant of SHANK3 (Q9BYB0)
A299T (p.Ala299Thr) in SHANK3 (Q9BYB0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A299T (p.Ala299Thr) variant details
- p.Ala299Thr
- rs766856815
- ClinGen CA10325299
- cosmic curated COSV99436
- ClinVar RCV002367200
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.17
- MetaLR 0.43
- MetaSVM -0.34
- MutPred 0.71
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance (in dbSNP:rs766856815)
- UniProt: Uncertain significance (in dbSNP:rs766856815)
- Population evidence available
- Structural context available
- Cited in: Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. (PMID 17173049)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)