A39S (p.Ala39Ser) variant of NRXN2 (Neurexin-2)
A39S (p.Ala39Ser) in NRXN2 (Neurexin-2) 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.
A39S (p.Ala39Ser) variant details
- p.Ala39Ser
- 1000Genomes rs2135676962
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.18
- MetaLR 0.32
- MetaSVM -0.65
- CADD 21.80
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 5.9e-05)
- Structural context available