H42R (p.His42Arg) variant of PTH1R (Q03431)
H42R (p.His42Arg) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H42R (p.His42Arg) variant details
- p.His42Arg
- gnomAD 3-46893956-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.13
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available