G54D (p.Gly54Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G54D (p.Gly54Asp) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G54D (p.Gly54Asp) variant details
- p.Gly54Asp
- cosmic curated COSV51958
- ExAC rs756667586
- TOPMed rs756667586
- gnomAD rs756667586
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.95
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available