V21M (p.Val21Met) variant of SHANK2 (Q9UPX8)
V21M (p.Val21Met) in SHANK2 (Q9UPX8) 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 0.13 / 1. The record also includes population frequency data and published literature.
V21M (p.Val21Met) variant details
- p.Val21Met
- rs782574580
- ClinGen CA6162185
- ClinVar RCV003273007
- ExAC rs782574580
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.4e-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)