A99T (p.Ala99Thr) variant of NRXN2 (Neurexin-2)
A99T (p.Ala99Thr) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A99T (p.Ala99Thr) variant details
- p.Ala99Thr
- ExAC rs762916724
- gnomAD rs762916724
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.29
- MetaLR 0.37
- MetaSVM -0.43
- CADD 21.00
- PolyPhen-2 0.24
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 4.3e-05)
- Structural context available