K86R (p.Lys86Arg) variant of ARNT (P27540)
K86R (p.Lys86Arg) in ARNT (P27540) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K86R (p.Lys86Arg) variant details
- p.Lys86Arg
- ExAC rs767352759
- TOPMed rs767352759
- gnomAD rs767352759
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.24
- CADD 25.20
- PolyPhen-2 0.76
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00022)
- Structural context available