E79D (p.Glu79Asp) variant of COL2A1 (Collagen alpha-1(II) chain)
E79D (p.Glu79Asp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E79D (p.Glu79Asp) variant details
- p.Glu79Asp
- rs757029242
- ClinGen CA6536071
- ClinVar RCV002036595
- ExAC rs757029242
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.14
- CADD 17.90
- PolyPhen-2 0.22
- SIFT 0.56
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available