G30R (p.Gly30Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
G30R (p.Gly30Arg) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- ExAC rs757451961
- TOPMed rs757451961
- gnomAD rs757451961
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.19
- ESM-1b 0.87
- AlphaMissense 0.14
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available