G639D (p.Gly639Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
G639D (p.Gly639Asp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Multiple epiphyseal dysplasia; Developmental dysplasia of the hip. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
G639D (p.Gly639Asp) variant details
- p.Gly639Asp
- rs1057518908
- ClinGen CA16043472
- ClinVar RCV000415092
- ClinVar RCV003144254
- Likely pathogenic
- not provided; Multiple epiphyseal dysplasia; Developmental dysplasia of the hip
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.84
- SIFT 0.01
- EVE 0.93
- ClinVar: Likely pathogenic (not provided; Multiple epiphyseal dysplasia; Developmental dyspl)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available