D422A (p.Asp422Ala) variant of COMP (P49747)
D422A (p.Asp422Ala) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple epiphyseal dysplasia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
D422A (p.Asp422Ala) variant details
- p.Asp422Ala
- rs1568554988
- ClinGen CA404885997
- ClinVar RCV000761229
- Ensembl rs1568554988
- Likely pathogenic
- Multiple epiphyseal dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Multiple epiphyseal dysplasia type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)