S80L (p.Ser80Leu) variant of NLGN4X (Neuroligin-4, X-linked)
S80L (p.Ser80Leu) in NLGN4X (Neuroligin-4, X-linked) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S80L (p.Ser80Leu) variant details
- p.Ser80Leu
- cosmic curated COSV52022
- Ensembl rs990073320
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -0.95
- CADD 17.20
- PolyPhen-2 0.18
- SIFT 0.33
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available