R72S (p.Arg72Ser) variant of ACAN (Aggrecan core protein)
R72S (p.Arg72Ser) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R72S (p.Arg72Ser) variant details
- p.Arg72Ser
- ExAC rs769916642
- TOPMed rs769916642
- gnomAD rs769916642
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 25.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available