V19L (p.Val19Leu) variant of COL11A1 (Collagen alpha-1(XI) chain)
V19L (p.Val19Leu) in COL11A1 (Collagen alpha-1(XI) 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 0.21 / 1. The record also includes structural context.
V19L (p.Val19Leu) variant details
- p.Val19Leu
- rs770851098
- ClinGen CA341159550
- ClinVar RCV003044873
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available