P68Q (p.Pro68Gln) variant of ACAN (Aggrecan core protein)
P68Q (p.Pro68Gln) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
P68Q (p.Pro68Gln) variant details
- p.Pro68Gln
- rs773473572
- ClinGen CA7719169
- NCI-TCGA Cosmic COSV6135
- cosmic curated COSV61358
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available