F33L (p.Phe33Leu) variant of NRXN1 (Neurexin-1)
F33L (p.Phe33Leu) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
F33L (p.Phe33Leu) variant details
- p.Phe33Leu
- rs2105334367
- ClinGen CA346824715
- ClinVar RCV001776860
- Ensembl rs2105334367
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.82
- CADD 25.00
- PolyPhen-2 0.63
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available