L14H (p.Leu14His) variant of PTH1R (Q03431)
L14H (p.Leu14His) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L14H (p.Leu14His) variant details
- p.Leu14His
- gnomAD 3-46883600-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.17
- CADD 27.20
- PolyPhen-2 0.53
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available