R5L (p.Arg5Leu) variant of PTH1R (Q03431)
R5L (p.Arg5Leu) 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.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- gnomAD 3-46883573-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.13
- CADD 23.40
- PolyPhen-2 0.17
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available