L14P (p.Leu14Pro) variant of PTH1R (Q03431)
L14P (p.Leu14Pro) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- gnomAD 3-46883600-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.28
- CADD 24.90
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available