P71T (p.Pro71Thr) variant of COL1A2 (Collagen alpha-2(I) chain)
P71T (p.Pro71Thr) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
P71T (p.Pro71Thr) variant details
- p.Pro71Thr
- ExAC rs775240284
- TOPMed rs775240284
- gnomAD rs775240284
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.67
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available