V129I (p.Val129Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
V129I (p.Val129Ile) 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 Marshall syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes structural context.
V129I (p.Val129Ile) variant details
- p.Val129Ile
- rs1672174219
- ClinGen CA341167850
- ClinVar RCV001197819
- Ensembl rs1672174219
- Uncertain significance
- Marshall syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.89
- PolyPhen-2 0.03
- SIFT 0.14
- ClinVar: Uncertain significance (Marshall syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available