L14I (p.Leu14Ile) variant of PTH1R (Q03431)
L14I (p.Leu14Ile) 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.
L14I (p.Leu14Ile) variant details
- p.Leu14Ile
- gnomAD 3-46883599-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.03
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available