E81K (p.Glu81Lys) variant of NLGN3 (Neuroligin-3)
E81K (p.Glu81Lys) in NLGN3 (Neuroligin-3) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E81K (p.Glu81Lys) variant details
- p.Glu81Lys
- rs768698460
- ClinGen CA10444985
- NCI-TCGA Cosmic COSV6244
- cosmic curated COSV62444
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.32
- CADD 22.90
- PolyPhen-2 0.30
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-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)