P82A (p.Pro82Ala) variant of NLGN4X (Neuroligin-4, X-linked)
P82A (p.Pro82Ala) in NLGN4X (Neuroligin-4, X-linked) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
P82A (p.Pro82Ala) variant details
- p.Pro82Ala
- TOPMed rs2040158669
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.92
- MetaLR 0.85
- MetaSVM 1.00
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available