R106C (p.Arg106Cys) variant of ADCY5 (Adenylate cyclase type 5)
R106C (p.Arg106Cys) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, 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 0.34 / 1. The record also includes population frequency data and structural context.
R106C (p.Arg106Cys) variant details
- p.Arg106Cys
- rs2107659076
- ClinGen CA354358371
- ClinVar RCV001774476
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.29
- MetaLR 0.19
- MetaSVM -0.94
- CADD 24.60
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available