G92V (p.Gly92Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
G92V (p.Gly92Val) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.37 / 1. The record also includes population frequency data and structural context.
G92V (p.Gly92Val) variant details
- p.Gly92Val
- rs1372284079
- ClinGen CA341168092
- ClinVar RCV001761354
- TOPMed rs1372284079
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 22.90
- PolyPhen-2 0.17
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available