A47T (p.Ala47Thr) variant of NRXN2 (Neurexin-2)
A47T (p.Ala47Thr) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- cosmic curated COSV10961
- gnomAD rs1252751874
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 15.80
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available