C75S (p.Cys75Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
C75S (p.Cys75Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
C75S (p.Cys75Ser) variant details
- p.Cys75Ser
- ExAC rs767276172
- gnomAD rs767276172
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.91
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available