R61C (p.Arg61Cys) variant of NRXN1 (Neurexin-1)
R61C (p.Arg61Cys) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R61C (p.Arg61Cys) variant details
- p.Arg61Cys
- NCI-TCGA Cosmic COSV6800
- cosmic curated COSV68006
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.58
- CADD 29.40
- PolyPhen-2 0.77
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available