M20T (p.Met20Thr) variant of NLGN4X (Neuroligin-4, X-linked)
M20T (p.Met20Thr) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
M20T (p.Met20Thr) variant details
- p.Met20Thr
- rs2519423501
- ClinGen CA412015561
- ClinVar RCV002300826
- ClinVar RCV003097871
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.10
- MetaLR 0.12
- MetaSVM -1.01
- CADD 7.84
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- 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)