G128V (p.Gly128Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
G128V (p.Gly128Val) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G128V (p.Gly128Val) variant details
- p.Gly128Val
- gnomAD rs1407358543
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available