I124M (p.Ile124Met) variant of COL11A1 (Collagen alpha-1(XI) chain)
I124M (p.Ile124Met) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I124M (p.Ile124Met) variant details
- p.Ile124Met
- gnomAD rs1381314285
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 23.30
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available