I38S (p.Ile38Ser) variant of PTH1R (Q03431)
I38S (p.Ile38Ser) in PTH1R (Q03431) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
I38S (p.Ile38Ser) variant details
- p.Ile38Ser
- gnomAD 3-46893942-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.643
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available