R40R (p.Arg40Arg) variant of ACAN (Aggrecan core protein)
R40R (p.Arg40Arg) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R40R (p.Arg40Arg) variant details
- p.Arg40Arg
- rs374081272
- gnomAD 15-88838712-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 6.27
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available