G9D (p.Gly9Asp) variant of PTH1R (Q03431)
G9D (p.Gly9Asp) 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 and structural context.
G9D (p.Gly9Asp) variant details
- p.Gly9Asp
- cosmic curated COSV57314
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.03
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available