A23T (p.Ala23Thr) variant of PKD2 (Polycystin-2)
A23T (p.Ala23Thr) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- gnomAD rs1726225217
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.03
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available