S101F (p.Ser101Phe) variant of ADCY5 (Adenylate cyclase type 5)
S101F (p.Ser101Phe) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S101F (p.Ser101Phe) variant details
- p.Ser101Phe
- TOPMed rs1190923336
- gnomAD rs1190923336
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.34
- MetaLR 0.31
- MetaSVM -0.61
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available