P81A (p.Pro81Ala) variant of NLGN4X (Neuroligin-4, X-linked)
P81A (p.Pro81Ala) 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 0.35 / 1. The record also includes population frequency data and structural context.
P81A (p.Pro81Ala) variant details
- p.Pro81Ala
- rs1245032090
- ClinGen CA412015165
- ClinVar RCV003327741
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.25
- MetaLR 0.24
- MetaSVM -0.60
- CADD 13.70
- PolyPhen-2 0.08
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available