L12P (p.Leu12Pro) variant of PTH1R (Q03431)
L12P (p.Leu12Pro) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- gnomAD 3-46883594-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.26
- CADD 24.00
- PolyPhen-2 0.36
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available