P9L (p.Pro9Leu) variant of NRXN2 (Neurexin-2)
P9L (p.Pro9Leu) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- rs908791840
- ClinGen CA223881898
- ClinVar RCV004493654
- TOPMed rs908791840
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.01
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available