K16T (p.Lys16Thr) variant of PKD2 (Polycystin-2)
K16T (p.Lys16Thr) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
K16T (p.Lys16Thr) variant details
- p.Lys16Thr
- gnomAD 4-88007780-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0739
- REVEL 0.03
- CADD 9.87
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Finnish in Finland (FIN) population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available