T105K (p.Thr105Lys) variant of COMP (P49747)
T105K (p.Thr105Lys) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
T105K (p.Thr105Lys) variant details
- p.Thr105Lys
- rs1377001812
- ClinGen CA404898528
- cosmic curated COSV10807
- ClinVar RCV001123644
- Uncertain significance
- Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal d
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.38
- MetaSVM -0.18
- CADD 20.50
- ClinVar: Uncertain significance (Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spon)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)