L89V (p.Leu89Val) variant of ADCY5 (Adenylate cyclase type 5)
L89V (p.Leu89Val) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L89V (p.Leu89Val) variant details
- p.Leu89Val
- ExAC rs770280288
- gnomAD rs770280288
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -1.00
- CADD 3.76
- PolyPhen-2 0.03
- SIFT 0.54
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available