K100N (p.Lys100Asn) variant of ADCY5 (Adenylate cyclase type 5)
K100N (p.Lys100Asn) in ADCY5 (Adenylate cyclase type 5) is a missense change. 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.
K100N (p.Lys100Asn) variant details
- p.Lys100Asn
- ExAC rs756174070
- TOPMed rs756174070
- gnomAD rs756174070
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.27
- MetaLR 0.29
- MetaSVM -0.58
- CADD 23.10
- PolyPhen-2 0.37
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available