L12I (p.Leu12Ile) variant of PTH1R (Q03431)
L12I (p.Leu12Ile) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- gnomAD 3-46883593-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.04
- CADD 22.50
- PolyPhen-2 0.06
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available