K100M (p.Lys100Met) variant of ADCY5 (Adenylate cyclase type 5)
K100M (p.Lys100Met) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K100M (p.Lys100Met) variant details
- p.Lys100Met
- TOPMed rs1038111568
- gnomAD rs1038111568
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.36
- MetaLR 0.30
- MetaSVM -0.50
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available