H17P (p.His17Pro) variant of COL3A1 (Collagen alpha-1(III) chain)
H17P (p.His17Pro) in COL3A1 (Collagen alpha-1(III) 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 0.41 / 1. The record also includes population frequency data and structural context.
H17P (p.His17Pro) variant details
- p.His17Pro
- TOPMed rs1311785540
- gnomAD rs1311785540
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.39
- MetaLR 0.56
- MetaSVM -0.07
- CADD 21.70
- PolyPhen-2 0.05
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available