V18C (p.Val18Cys) variant of PTH1R (Q03431)
V18C (p.Val18Cys) 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.
V18C (p.Val18Cys) variant details
- p.Val18Cys
- gnomAD 3-46883606-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available