L40R (p.Leu40Arg) variant of PTH1R (Q03431)
L40R (p.Leu40Arg) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L40R (p.Leu40Arg) variant details
- p.Leu40Arg
- gnomAD 3-46893950-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.53
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available