T58M (p.Thr58Met) variant of PKD1 (Polycystin-1)
T58M (p.Thr58Met) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T58M (p.Thr58Met) variant details
- p.Thr58Met
- TOPMed rs937748491
- gnomAD rs937748491
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.04
- CADD 16.20
- PolyPhen-2 0.03
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available