R58L (p.Arg58Leu) variant of NRXN2 (Neurexin-2)
R58L (p.Arg58Leu) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R58L (p.Arg58Leu) variant details
- p.Arg58Leu
- ExAC rs753950974
- gnomAD rs753950974
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.73
- MetaLR 0.59
- MetaSVM 0.17
- CADD 26.20
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available