A31V (p.Ala31Val) variant of ADCY5 (Adenylate cyclase type 5)
A31V (p.Ala31Val) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- gnomAD rs1945871343
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.25
- MetaLR 0.35
- MetaSVM -0.53
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available