L10P (p.Leu10Pro) variant of PTH1R (Q03431)
L10P (p.Leu10Pro) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L10P (p.Leu10Pro) variant details
- p.Leu10Pro
- gnomAD 3-46883588-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.22
- CADD 25.30
- PolyPhen-2 0.27
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available