A60S (p.Ala60Ser) variant of ADCY5 (Adenylate cyclase type 5)
A60S (p.Ala60Ser) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A60S (p.Ala60Ser) variant details
- p.Ala60Ser
- gnomAD rs1221350025
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.15
- MetaLR 0.16
- MetaSVM -1.02
- CADD 9.79
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available