L138V (p.Leu138Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
L138V (p.Leu138Val) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
L138V (p.Leu138Val) variant details
- p.Leu138Val
- TOPMed rs1672172274
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- ESM-1b 1.00
- AlphaMissense 0.38
- Structural context available