A7T (p.Ala7Thr) variant of PTH1R (Q03431)
A7T (p.Ala7Thr) in PTH1R (Q03431) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- rs959937327
- Ensembl rs959937327
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.05
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.6e-05)
- Structural context available