V17A (p.Val17Ala) variant of NLGN4X (Neuroligin-4, X-linked)
V17A (p.Val17Ala) 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 0.16 / 1. The record also includes population frequency data and structural context.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- rs1343544501
- ClinGen CA412015581
- ClinVar RCV000497444
- gnomAD rs1343544501
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.12
- MetaLR 0.11
- MetaSVM -1.02
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available