P11A (p.Pro11Ala) variant of NRXN2 (Neurexin-2)
P11A (p.Pro11Ala) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- rs984552176
- ClinGen CA223881896
- ClinVar RCV004493655
- TOPMed rs984552176
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 7.86
- SIFT 0.58
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available