Q93* (p.Gln93Ter) variant of SHANK2 (Q9UPX8)
Q93* (p.Gln93Ter) in SHANK2 (Q9UPX8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and published literature.
Q93* (p.Gln93Ter) variant details
- p.Gln93Ter
- rs1555100954
- ClinGen CA381960091
- ClinVar RCV000622565
- ClinVar RCV003488732
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3.2e-05)
- 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)