A11T (p.Ala11Thr) variant of PTH1R (Q03431)
A11T (p.Ala11Thr) 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 0.32 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.04
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available