A63S (p.Ala63Ser) variant of NRXN1 (Neurexin-1)
A63S (p.Ala63Ser) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A63S (p.Ala63Ser) variant details
- p.Ala63Ser
- ExAC rs747724604
- gnomAD rs747724604
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.27
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available