L25P (p.Leu25Pro) variant of PTH1R (Q03431)
L25P (p.Leu25Pro) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L25P (p.Leu25Pro) variant details
- p.Leu25Pro
- gnomAD 3-46883633-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.26
- CADD 27.60
- PolyPhen-2 0.28
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available