K35N (p.Lys35Asn) variant of NLGN4X (Neuroligin-4, X-linked)
K35N (p.Lys35Asn) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
K35N (p.Lys35Asn) variant details
- p.Lys35Asn
- rs398124363
- ClinGen CA10341258
- NCI-TCGA Cosmic COSV5202
- cosmic curated COSV52024
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.10
- MetaLR 0.14
- MetaSVM -1.00
- CADD 0.47
- PolyPhen-2 0.06
- SIFT 0.60
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00042)
- 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)