L21Q (p.Leu21Gln) variant of COL4A3 (Collagen alpha-3(IV) chain)
L21Q (p.Leu21Gln) in COL4A3 (Collagen alpha-3(IV) 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 0.41 / 1. The record also includes structural context.
L21Q (p.Leu21Gln) variant details
- p.Leu21Gln
- rs2065150280
- ClinGen CA350846160
- ClinVar RCV003541933
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- AlphaMissense 0.11
- MetaLR 0.46
- MetaSVM -0.52
- PolyPhen-2 0.01
- SIFT 0.01
- MutPred 0.64
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available