A80V (p.Ala80Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
A80V (p.Ala80Val) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
A80V (p.Ala80Val) variant details
- p.Ala80Val
- TOPMed rs1672519979
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- ESM-1b 0.00
- AlphaMissense 0.15
- Structural context available