T3N (p.Thr3Asn) variant of PTH1R (Q03431)
T3N (p.Thr3Asn) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T3N (p.Thr3Asn) variant details
- p.Thr3Asn
- gnomAD 3-46883567-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.04
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available