K37K (p.Lys37Lys) variant of PDGFRA (P16234)
K37K (p.Lys37Lys) in PDGFRA (P16234) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K37K (p.Lys37Lys) variant details
- p.Lys37Lys
- rs2110186594
- gnomAD 4-54240115-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.213
- CADD 18.70
- Population evidence available
- Structural context available
- Literature evidence available