A24T (p.Ala24Thr) variant of PTH1R (Q03431)
A24T (p.Ala24Thr) 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.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- gnomAD 3-46883629-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.06
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available