S6I (p.Ser6Ile) variant of ADCY5 (Adenylate cyclase type 5)
S6I (p.Ser6Ile) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S6I (p.Ser6Ile) variant details
- p.Ser6Ile
- rs977612868
- ClinGen CA82636619
- ClinVar RCV001891496
- TOPMed rs977612868
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.44
- MetaLR 0.39
- MetaSVM -0.11
- CADD 23.20
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available