L20P (p.Leu20Pro) variant of NRXN1 (Neurexin-1)
L20P (p.Leu20Pro) in NRXN1 (Neurexin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- gnomAD rs1670923027
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.60
- CADD 24.60
- PolyPhen-2 0.38
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available