R56C (p.Arg56Cys) variant of GABRA1 (P14867)
R56C (p.Arg56Cys) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
R56C (p.Arg56Cys) variant details
- p.Arg56Cys
- NCI-TCGA Cosmic COSV5009
- cosmic curated COSV50099
- NCI-TCGA Cosmic COSV5010
- Likely pathogenic
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.86
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Inborn genetic diseases)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available