P36A (p.Pro36Ala) variant of COL1A1 (Collagen alpha-1(I) chain)
P36A (p.Pro36Ala) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
P36A (p.Pro36Ala) variant details
- p.Pro36Ala
- rs2509259842
- ClinGen CA400228719
- ClinVar RCV002410979
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available