L69R (p.Leu69Arg) variant of NRXN2 (Neurexin-2)
L69R (p.Leu69Arg) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L69R (p.Leu69Arg) variant details
- p.Leu69Arg
- 1000Genomes rs566365476
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.71
- MetaLR 0.46
- MetaSVM 0.02
- CADD 26.60
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available