R6P (p.Arg6Pro) variant of NRXN2 (Neurexin-2)
R6P (p.Arg6Pro) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar, EBI, 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 0.16 / 1. The record also includes population frequency data and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- rs922723840
- ClinGen CA223881903
- ClinVar RCV004210880
- 1000Genomes rs922723840
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.03
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.5e-05)
- Structural context available