F49C (p.Phe49Cys) variant of ARNT (P27540)
F49C (p.Phe49Cys) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
F49C (p.Phe49Cys) variant details
- p.Phe49Cys
- ESP rs147957446
- ExAC rs147957446
- TOPMed rs147957446
- gnomAD rs147957446
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.20
- CADD 28.00
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00014)