K47Q (p.Lys47Gln) variant of COL4A5 (Collagen alpha-5(IV) chain)
K47Q (p.Lys47Gln) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K47Q (p.Lys47Gln) variant details
- p.Lys47Gln
- gnomAD X-108539803-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.57
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available