T17A (p.Thr17Ala) variant of ADCY5 (Adenylate cyclase type 5)
T17A (p.Thr17Ala) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T17A (p.Thr17Ala) variant details
- p.Thr17Ala
- Ensembl rs1285607274
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.12
- MetaLR 0.12
- MetaSVM -0.97
- CADD 0.99
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the African/African-American population (allele frequency 4.3e-05)
- Structural context available