I6L (p.Ile6Leu) variant of PTH1R (Q03431)
I6L (p.Ile6Leu) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I6L (p.Ile6Leu) variant details
- p.Ile6Leu
- gnomAD 3-46883575-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.10
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available