F137S (p.Phe137Ser) variant of COMP (P49747)
F137S (p.Phe137Ser) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Connective tissue disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
F137S (p.Phe137Ser) variant details
- p.Phe137Ser
- rs757094319
- ClinGen CA9316729
- ClinVar RCV000275499
- ClinVar RCV000330560
- Benign/Likely benign
- not specified; not provided; Connective tissue disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.63
- CADD 27.90
- PolyPhen-2 0.65
- SIFT 0.19
- ClinVar: Benign/Likely benign (not specified; not provided; Connective tissue disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)