H58L (p.His58Leu) variant of ACAN (Aggrecan core protein)
H58L (p.His58Leu) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
H58L (p.His58Leu) variant details
- p.His58Leu
- gnomAD 15-88838765-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available