A48V (p.Ala48Val) variant of NRXN2 (Neurexin-2)
A48V (p.Ala48Val) 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 0.63 / 1. The record also includes population frequency data and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- rs748751882
- ClinGen CA6078755
- ClinVar RCV004184838
- ExAC rs748751882
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 19.40
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available