K100T (p.Lys100Thr) variant of ADCY5 (Adenylate cyclase type 5)
K100T (p.Lys100Thr) 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 0.43 / 1. The record also includes population frequency data and structural context.
K100T (p.Lys100Thr) variant details
- p.Lys100Thr
- rs1038111568
- ClinGen CA82636278
- ClinVar RCV001587694
- TOPMed rs1038111568
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.45
- MetaLR 0.32
- MetaSVM -0.36
- CADD 23.60
- PolyPhen-2 0.26
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available