T62I (p.Thr62Ile) variant of ADCY5 (Adenylate cyclase type 5)
T62I (p.Thr62Ile) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
T62I (p.Thr62Ile) variant details
- p.Thr62Ile
- Ensembl rs1945868860
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.36
- MetaLR 0.31
- MetaSVM -0.45
- CADD 24.10
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available