T58R (p.Thr58Arg) variant of PKD1 (Polycystin-1)
T58R (p.Thr58Arg) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T58R (p.Thr58Arg) variant details
- p.Thr58Arg
- TOPMed rs937748491
- gnomAD rs937748491
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.01
- CADD 11.40
- SIFT 0.58
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available