L13M (p.Leu13Met) variant of PTH1R (Q03431)
L13M (p.Leu13Met) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- gnomAD 3-46883596-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.04
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available