G104E (p.Gly104Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G104E (p.Gly104Glu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G104E (p.Gly104Glu) variant details
- p.Gly104Glu
- cosmic curated COSV10742
- TOPMed rs1015202999
- gnomAD rs1015202999
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available