K47K (p.Lys47Lys) variant of COL4A5 (Collagen alpha-5(IV) chain)
K47K (p.Lys47Lys) in COL4A5 (Collagen alpha-5(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K47K (p.Lys47Lys) variant details
- p.Lys47Lys
- rs1486934440
- gnomAD X-108539805-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.659
- AlphaMissense 0.91
- MetaLR 0.84
- MetaSVM 0.78
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available