L13P (p.Leu13Pro) variant of COL3A1 (Collagen alpha-1(III) chain)
L13P (p.Leu13Pro) in COL3A1 (Collagen alpha-1(III) 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 0.72 / 1. The record also includes structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- rs2153500016
- ClinGen CA349845420
- ClinVar RCV001756507
- Ensembl rs2153500016
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- AlphaMissense 0.44
- MetaLR 0.74
- MetaSVM 0.63
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.68
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available