D46V (p.Asp46Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
D46V (p.Asp46Val) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D46V (p.Asp46Val) variant details
- p.Asp46Val
- gnomAD rs1292563811
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 23.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available