S96R (p.Ser96Arg) variant of ADCY5 (Adenylate cyclase type 5)
S96R (p.Ser96Arg) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S96R (p.Ser96Arg) variant details
- p.Ser96Arg
- ExAC rs773970900
- gnomAD rs773970900
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.24
- MetaLR 0.33
- MetaSVM -0.67
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available