P8H (p.Pro8His) variant of PTH1R (Q03431)
P8H (p.Pro8His) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P8H (p.Pro8His) variant details
- p.Pro8His
- gnomAD 3-46883582-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.07
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available