S94L (p.Ser94Leu) variant of NLGN3 (Neuroligin-3)
S94L (p.Ser94Leu) in NLGN3 (Neuroligin-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
S94L (p.Ser94Leu) variant details
- p.Ser94Leu
- NCI-TCGA Cosmic COSV6244
- cosmic curated COSV62442
- TOPMed rs2092377244
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.29
- CADD 22.80
- PolyPhen-2 0.32
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.8e-05)