V26M (p.Val26Met) variant of PTH1R (Q03431)
V26M (p.Val26Met) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V26M (p.Val26Met) variant details
- p.Val26Met
- TOPMed rs200498439
- gnomAD rs200498439
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.16
- CADD 33.00
- PolyPhen-2 0.85
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available