R42H (p.Arg42His) variant of NRXN1 (Neurexin-1)
R42H (p.Arg42His) in NRXN1 (Neurexin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R42H (p.Arg42His) variant details
- p.Arg42His
- rs1166363453
- NCI-TCGA Cosmic COSV6801
- cosmic curated COSV68014
- gnomAD rs1166363453
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.74
- CADD 25.20
- PolyPhen-2 0.92
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available