A20T (p.Ala20Thr) variant of PKD2 (Polycystin-2)
A20T (p.Ala20Thr) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- TOPMed rs1490499917
- gnomAD rs1490499917
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.05
- CADD 15.80
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available