H58Y (p.His58Tyr) variant of ACAN (Aggrecan core protein)
H58Y (p.His58Tyr) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
H58Y (p.His58Tyr) variant details
- p.His58Tyr
- gnomAD 15-88838764-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 24.60
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available