P44L (p.Pro44Leu) variant of NRXN1 (Neurexin-1)
P44L (p.Pro44Leu) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pitt-Hopkins-like syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- rs1670900195
- ClinGen CA346824643
- ClinVar RCV001306821
- Ensembl rs1670900195
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.24
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.64
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available