P44L (p.Pro44Leu) variant of SHANK2 (Q9UPX8)
P44L (p.Pro44Leu) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- rs554208670
- ClinGen CA6162178
- cosmic curated COSV10063
- ClinVar RCV000449618
- Uncertain significance
- Intellectual disability; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 23.80
- PolyPhen-2 0.69
- SIFT 0.05
- ClinVar: Uncertain significance (Intellectual disability; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- 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)