L17V (p.Leu17Val) variant of NRXN2 (Neurexin-2)
L17V (p.Leu17Val) 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 0.18 / 1. The record also includes population frequency data and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- rs797045802
- ClinGen CA209262
- ClinVar RCV000194830
- 1000Genomes rs797045802
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.13
- MetaLR 0.15
- MetaSVM -0.99
- CADD 9.37
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available