S30R (p.Ser30Arg) variant of ACAN (Aggrecan core protein)
S30R (p.Ser30Arg) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S30R (p.Ser30Arg) variant details
- p.Ser30Arg
- ExAC rs751144925
- gnomAD rs751144925
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 22.70
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available