P34T (p.Pro34Thr) variant of ACAN (Aggrecan core protein)
P34T (p.Pro34Thr) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P34T (p.Pro34Thr) variant details
- p.Pro34Thr
- 1000Genomes rs550784997
- ExAC rs550784997
- TOPMed rs550784997
- gnomAD rs550784997
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 24.50
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available