G110V (p.Gly110Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
G110V (p.Gly110Val) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G110V (p.Gly110Val) variant details
- p.Gly110Val
- gnomAD rs1471161554
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available