S45I (p.Ser45Ile) variant of SHANK1 (Q9Y566)
S45I (p.Ser45Ile) in SHANK1 (Q9Y566) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S45I (p.Ser45Ile) variant details
- p.Ser45Ile
- rs1243508395
- ClinGen CA406998764
- ClinVar RCV002960057
- Ensembl rs1243508395
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.14
- MetaLR 0.06
- MetaSVM -1.05
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.1e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)