P34L (p.Pro34Leu) variant of NRXN1 (Neurexin-1)
P34L (p.Pro34Leu) in NRXN1 (Neurexin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.38
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available