M20I (p.Met20Ile) variant of NLGN4X (Neuroligin-4, X-linked)
M20I (p.Met20Ile) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
M20I (p.Met20Ile) variant details
- p.Met20Ile
- rs1038013179
- TOPMed rs1038013179
- gnomAD rs1038013179
- ClinGen CA412015558
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.13
- MetaLR 0.11
- MetaSVM -1.05
- CADD 9.07
- SIFT 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available