T105M (p.Thr105Met) variant of PKD1 (Polycystin-1)
T105M (p.Thr105Met) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T105M (p.Thr105Met) variant details
- p.Thr105Met
- ExAC rs759844373
- TOPMed rs759844373
- gnomAD rs759844373
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.21
- MetaLR 0.30
- MetaSVM -0.41
- CADD 26.00
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available