R79S (p.Arg79Ser) variant of COMP (P49747)
R79S (p.Arg79Ser) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R79S (p.Arg79Ser) variant details
- p.Arg79Ser
- rs768907479
- ClinGen CA9316782
- ClinVar RCV001124709
- ClinVar RCV001124710
- Uncertain significance
- not provided; Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondy
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (not provided; Multiple epiphyseal dysplasia type 1; Pseudoachond)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 7e-05)
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)