P34S (p.Pro34Ser) variant of ACAN (Aggrecan core protein)
P34S (p.Pro34Ser) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- cosmic curated COSV61359
- 1000Genomes rs550784997
- ExAC rs550784997
- TOPMed rs550784997
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available