T3I (p.Thr3Ile) variant of PTH1R (Q03431)
T3I (p.Thr3Ile) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- gnomAD 3-46883567-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.03
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available