L53F (p.Leu53Phe) variant of NRXN2 (Neurexin-2)
L53F (p.Leu53Phe) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L53F (p.Leu53Phe) variant details
- p.Leu53Phe
- 1000Genomes rs568060819
- ExAC rs568060819
- TOPMed rs568060819
- gnomAD rs568060819
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.63
- MetaLR 0.58
- MetaSVM 0.07
- CADD 26.30
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available