K7K (p.Lys7Lys) variant of COL3A1 (Collagen alpha-1(III) chain)
K7K (p.Lys7Lys) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K7K (p.Lys7Lys) variant details
- p.Lys7Lys
- gnomAD 2-188974510-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 13.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available