A63T (p.Ala63Thr) variant of NRXN1 (Neurexin-1)
A63T (p.Ala63Thr) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A63T (p.Ala63Thr) variant details
- p.Ala63Thr
- cosmic curated COSV68001
- ExAC rs747724604
- gnomAD rs747724604
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.21
- CADD 20.70
- PolyPhen-2 0.02
- SIFT 0.38
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available