R74C (p.Arg74Cys) variant of ADCY5 (Adenylate cyclase type 5)
R74C (p.Arg74Cys) in ADCY5 (Adenylate cyclase type 5) 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 0.50 / 1. The record also includes population frequency data and structural context.
R74C (p.Arg74Cys) variant details
- p.Arg74Cys
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.57
- MetaLR 0.47
- MetaSVM -0.02
- CADD 25.80
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available