L58F (p.Leu58Phe) variant of NRXN1 (Neurexin-1)
L58F (p.Leu58Phe) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L58F (p.Leu58Phe) variant details
- p.Leu58Phe
- TOPMed rs1017563126
- gnomAD rs1017563126
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.21
- CADD 19.20
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available