P9A (p.Pro9Ala) variant of ADCY5 (Adenylate cyclase type 5)
P9A (p.Pro9Ala) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P9A (p.Pro9Ala) variant details
- p.Pro9Ala
- rs1382254140
- ClinGen CA354359073
- ClinVar RCV003019727
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.29
- MetaLR 0.40
- MetaSVM -0.46
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.3e-05)
- Structural context available