P96R (p.Pro96Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
P96R (p.Pro96Arg) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P96R (p.Pro96Arg) variant details
- p.Pro96Arg
- ExAC rs747163212
- TOPMed rs747163212
- gnomAD rs747163212
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.08
- CADD 23.70
- PolyPhen-2 0.18
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available