L58V (p.Leu58Val) variant of NRXN1 (Neurexin-1)
L58V (p.Leu58Val) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L58V (p.Leu58Val) variant details
- p.Leu58Val
- TOPMed rs1017563126
- gnomAD rs1017563126
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.44
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available