V78A (p.Val78Ala) variant of ACAN (Aggrecan core protein)
V78A (p.Val78Ala) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V78A (p.Val78Ala) variant details
- p.Val78Ala
- gnomAD rs1403917136
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available