R100W (p.Arg100Trp) variant of ARNT (P27540)
R100W (p.Arg100Trp) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
R100W (p.Arg100Trp) variant details
- p.Arg100Trp
- Ensembl rs2101952540
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.74
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)