P10R (p.Pro10Arg) variant of ADCY5 (Adenylate cyclase type 5)
P10R (p.Pro10Arg) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P10R (p.Pro10Arg) variant details
- p.Pro10Arg
- 1000Genomes rs143905423
- ESP rs143905423
- ExAC rs143905423
- TOPMed rs143905423
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.51
- MetaLR 0.58
- MetaSVM 0.31
- CADD 26.40
- PolyPhen-2 0.90
- SIFT 0.00
- EBI: Benign (in dbSNP:rs143905423)
- UniProt: Benign (in dbSNP:rs143905423)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available