A70V (p.Ala70Val) variant of ADCY5 (Adenylate cyclase type 5)
A70V (p.Ala70Val) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- gnomAD rs1945868086
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.19
- MetaLR 0.22
- MetaSVM -0.83
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available