R40K (p.Arg40Lys) variant of ACAN (Aggrecan core protein)
R40K (p.Arg40Lys) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R40K (p.Arg40Lys) variant details
- p.Arg40Lys
- ExAC rs748319031
- TOPMed rs748319031
- gnomAD rs748319031
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available