A44G (p.Ala44Gly) variant of COL11A1 (Collagen alpha-1(XI) chain)
A44G (p.Ala44Gly) 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.
A44G (p.Ala44Gly) variant details
- p.Ala44Gly
- gnomAD rs1470129804
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available