K71Q (p.Lys71Gln) variant of ARNT (P27540)
K71Q (p.Lys71Gln) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
K71Q (p.Lys71Gln) variant details
- p.Lys71Gln
- TOPMed rs1422231816
- gnomAD rs1422231816
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.08
- CADD 24.20
- PolyPhen-2 0.80
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)