P36S (p.Pro36Ser) variant of ACAN (Aggrecan core protein)
P36S (p.Pro36Ser) 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.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- rs770179538
- ClinGen CA7719144
- ClinVar RCV003664866
- ExAC rs770179538
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 23.50
- PolyPhen-2 0.74
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available