P36L (p.Pro36Leu) variant of ACAN (Aggrecan core protein)
P36L (p.Pro36Leu) in ACAN (Aggrecan core protein) is a missense change. 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.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- cosmic curated COSV61356
- TOPMed rs1374390440
- gnomAD rs1374390440
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 23.50
- PolyPhen-2 0.85
- SIFT 0.03
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available