P10S (p.Pro10Ser) variant of ADCY5 (Adenylate cyclase type 5)
P10S (p.Pro10Ser) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- TOPMed rs1426562302
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.43
- MetaLR 0.40
- MetaSVM -0.17
- CADD 23.90
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance (in dbSNP:rs143905423)
- Most common in the Non-Finnish European population (allele frequency 3.2e-05)
- Structural context available