G60S (p.Gly60Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G60S (p.Gly60Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G60S (p.Gly60Ser) variant details
- p.Gly60Ser
- ExAC rs267601641
- gnomAD rs267601641
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.96
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available