L74V (p.Leu74Val) variant of NLGN4X (Neuroligin-4, X-linked)
L74V (p.Leu74Val) in NLGN4X (Neuroligin-4, X-linked) 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 0.38 / 1. The record also includes population frequency data and structural context.
L74V (p.Leu74Val) variant details
- p.Leu74Val
- cosmic curated COSV10730
- NCI-TCGA Cosmic COSV9932
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.49
- MetaLR 0.45
- MetaSVM -0.21
- CADD 18.70
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available