C11R (p.Cys11Arg) variant of NRXN1 (Neurexin-1)
C11R (p.Cys11Arg) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
C11R (p.Cys11Arg) variant details
- p.Cys11Arg
- Ensembl rs1575279892
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.51
- CADD 23.40
- PolyPhen-2 0.20
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available