S96T (p.Ser96Thr) variant of ADCY5 (Adenylate cyclase type 5)
S96T (p.Ser96Thr) 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 0.40 / 1. The record also includes population frequency data and structural context.
S96T (p.Ser96Thr) variant details
- p.Ser96Thr
- TOPMed rs899367992
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.21
- MetaLR 0.35
- MetaSVM -0.61
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available