R7K (p.Arg7Lys) variant of COL11A1 (Collagen alpha-1(XI) chain)
R7K (p.Arg7Lys) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R7K (p.Arg7Lys) variant details
- p.Arg7Lys
- TOPMed rs1244836532
- gnomAD rs1244836532
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 23.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available