L10W (p.Leu10Trp) variant of PTH1R (Q03431)
L10W (p.Leu10Trp) in PTH1R (Q03431) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L10W (p.Leu10Trp) variant details
- p.Leu10Trp
- gnomAD 3-46883585-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 25.50
- Population evidence available
- Structural context available
- Literature evidence available