P17S (p.Pro17Ser) variant of PTH1R (Q03431)
P17S (p.Pro17Ser) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- cosmic curated COSV57316
- TOPMed rs2030810164
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.06
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available