S20I (p.Ser20Ile) variant of PTH1R (Q03431)
S20I (p.Ser20Ile) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S20I (p.Ser20Ile) variant details
- p.Ser20Ile
- gnomAD 3-46883618-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.08
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available