P17A (p.Pro17Ala) variant of LAMC2 (Laminin subunit gamma-2)
P17A (p.Pro17Ala) in LAMC2 (Laminin subunit gamma-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P17A (p.Pro17Ala) variant details
- p.Pro17Ala
- rs1323482086
- gnomAD 1-183186398-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 25.50
- Population evidence available
- Structural context available
- Literature evidence available