S53P (p.Ser53Pro) variant of ADCY5 (Adenylate cyclase type 5)
S53P (p.Ser53Pro) 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.
S53P (p.Ser53Pro) variant details
- p.Ser53Pro
- Ensembl rs1945869481
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.16
- MetaLR 0.21
- MetaSVM -0.85
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available