A22T (p.Ala22Thr) variant of PTH1R (Q03431)
A22T (p.Ala22Thr) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- TOPMed rs1420036600
- gnomAD rs1420036600
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.06
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available