P76L (p.Pro76Leu) variant of SHANK2 (Q9UPX8)
P76L (p.Pro76Leu) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autism, susceptibility to, 17; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and published literature.
P76L (p.Pro76Leu) variant details
- p.Pro76Leu
- rs199717803
- ClinGen CA6162157
- cosmic curated COSV10465
- ClinVar RCV001090418
- Conflicting interpretations
- not provided; Autism, susceptibility to, 17; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autism, susceptibility to, 17; Inborn genetic dise)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- 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)