P13L (p.Pro13Leu) variant of NRXN2 (Neurexin-2)
P13L (p.Pro13Leu) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- 1000Genomes rs537171549
- gnomAD rs537171549
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.10
- MetaLR 0.07
- MetaSVM -1.03
- CADD 5.21
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available