L53P (p.Leu53Pro) variant of NRXN2 (Neurexin-2)
L53P (p.Leu53Pro) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
L53P (p.Leu53Pro) variant details
- p.Leu53Pro
- Ensembl rs2135676785
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.89
- MetaLR 0.69
- MetaSVM 0.45
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available