R43C (p.Arg43Cys) variant of PTH1R (Q03431)
R43C (p.Arg43Cys) 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 and structural context.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- 1000Genomes rs571011973
- ExAC rs571011973
- gnomAD rs571011973
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.30
- CADD 26.00
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available