R40S (p.Arg40Ser) variant of ACAN (Aggrecan core protein)
R40S (p.Arg40Ser) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R40S (p.Arg40Ser) variant details
- p.Arg40Ser
- TOPMed rs374081272
- gnomAD rs374081272
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 19.80
- PolyPhen-2 0.24
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available