I38N (p.Ile38Asn) variant of PTH1R (Q03431)
I38N (p.Ile38Asn) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
I38N (p.Ile38Asn) variant details
- p.Ile38Asn
- gnomAD 3-46893944-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.57
- CADD 28.70
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available