Y41H (p.Tyr41His) variant of COL2A1 (Collagen alpha-1(II) chain)
Y41H (p.Tyr41His) in COL2A1 (Collagen alpha-1(II) 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 0.51 / 1. The record also includes population frequency data and structural context.
Y41H (p.Tyr41His) variant details
- p.Tyr41His
- rs1592239128
- ClinGen CA384526662
- ClinVar RCV002464907
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.45
- CADD 24.40
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available