R138S (p.Arg138Ser) variant of NRXN2 (Neurexin-2)
R138S (p.Arg138Ser) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R138S (p.Arg138Ser) variant details
- p.Arg138Ser
- gnomAD rs1393547200
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.31
- MetaLR 0.38
- MetaSVM -0.45
- CADD 22.40
- PolyPhen-2 0.37
- SIFT 0.09
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.9e-05)
- Structural context available