Q42K (p.Gln42Lys) variant of COL1A1 (Collagen alpha-1(I) chain)
Q42K (p.Gln42Lys) in COL1A1 (Collagen alpha-1(I) 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 0.35 / 1. The record also includes population frequency data and structural context.
Q42K (p.Gln42Lys) variant details
- p.Gln42Lys
- rs1223061614
- ClinGen CA400228663
- ClinVar RCV003152263
- gnomAD rs1223061614
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.21
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available