I6T (p.Ile6Thr) variant of PTH1R (Q03431)
I6T (p.Ile6Thr) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I6T (p.Ile6Thr) variant details
- p.Ile6Thr
- gnomAD 3-46883576-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.13
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available