R6L (p.Arg6Leu) variant of NRXN2 (Neurexin-2)
R6L (p.Arg6Leu) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- rs922723840
- ClinGen CA381121798
- ClinVar RCV004282528
- 1000Genomes rs922723840
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -1.02
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available