I320T (p.Ile320Thr) variant of SHANK3 (Q9BYB0)
I320T (p.Ile320Thr) in SHANK3 (Q9BYB0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Inborn genetic diseases; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I320T (p.Ile320Thr) variant details
- p.Ile320Thr
- rs9616915
- ClinGen CA10325308
- cosmic curated COSV53184
- ClinVar RCV000454654
- Benign
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- AlphaMissense 0.05
- MetaLR 0.00
- MetaSVM -0.94
- ClinVar: Benign (Inborn genetic diseases; not specified; not provided)
- EBI: Benign (in dbSNP:rs9616915)
- UniProt: Benign (in dbSNP:rs9616915)
- Population evidence available
- Structural context available
- Cited in: De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for… (PMID 20385823)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)