Q88H (p.Gln88His) variant of COL11A1 (Collagen alpha-1(XI) chain)
Q88H (p.Gln88His) 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.
Q88H (p.Gln88His) variant details
- p.Gln88His
- ExAC rs776794060
- gnomAD rs776794060
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 22.80
- PolyPhen-2 0.55
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available