R43L (p.Arg43Leu) variant of PTH1R (Q03431)
R43L (p.Arg43Leu) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R43L (p.Arg43Leu) variant details
- p.Arg43Leu
- gnomAD 3-46893959-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.16
- CADD 24.70
- PolyPhen-2 0.29
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available