C18W (p.Cys18Trp) variant of COL1A2 (Collagen alpha-2(I) chain)
C18W (p.Cys18Trp) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
C18W (p.Cys18Trp) variant details
- p.Cys18Trp
- ExAC rs755856571
- gnomAD rs755856571
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.46
- CADD 23.80
- PolyPhen-2 0.32
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available