L27V (p.Leu27Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
L27V (p.Leu27Val) 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 0.22 / 1. The record also includes structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- rs2102453014
- ClinGen CA341159320
- ClinVar RCV001922790
- Ensembl rs2102453014
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.06
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available