A13V (p.Ala13Val) variant of ADCY5 (Adenylate cyclase type 5)
A13V (p.Ala13Val) 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.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- TOPMed rs1324485629
- gnomAD rs1324485629
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.18
- MetaLR 0.22
- MetaSVM -0.81
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available