P93T (p.Pro93Thr) variant of COL1A1 (Collagen alpha-1(I) chain)
P93T (p.Pro93Thr) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P93T (p.Pro93Thr) variant details
- p.Pro93Thr
- rs886042456
- ClinGen CA10604269
- ClinVar RCV000293998
- TOPMed rs886042456
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 23.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available