E29K (p.Glu29Lys) variant of COL1A1 (Collagen alpha-1(I) chain)
E29K (p.Glu29Lys) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- rs1466255265
- NCI-TCGA Cosmic COSV5680
- TOPMed rs1466255265
- gnomAD rs1466255265
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 17.70
- PolyPhen-2 0.03
- SIFT 0.88
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available