G146D (p.Gly146Asp) variant of ARNT (P27540)
G146D (p.Gly146Asp) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
G146D (p.Gly146Asp) variant details
- p.Gly146Asp
- cosmic curated COSV10441
- ExAC rs773484109
- gnomAD rs773484109
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.38
- CADD 25.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)