H122Y (p.His122Tyr) variant of COL11A1 (Collagen alpha-1(XI) chain)
H122Y (p.His122Tyr) 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 0.41 / 1. The record also includes population frequency data and structural context.
H122Y (p.His122Tyr) variant details
- p.His122Tyr
- rs1469555372
- ClinGen CA341167896
- cosmic curated COSV10591
- ClinVar RCV003552134
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 23.50
- PolyPhen-2 0.14
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available