P45R (p.Pro45Arg) variant of ARNT (P27540)
P45R (p.Pro45Arg) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
P45R (p.Pro45Arg) variant details
- p.Pro45Arg
- Ensembl rs1664992987
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.12
- CADD 19.10
- PolyPhen-2 0.14
- SIFT 0.56
- Most common in the African/African-American population (allele frequency 3e-05)