K16R (p.Lys16Arg) variant of PKD2 (Polycystin-2)
K16R (p.Lys16Arg) 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 and structural context.
K16R (p.Lys16Arg) variant details
- p.Lys16Arg
- TOPMed rs927151115
- gnomAD rs927151115
- Missense
- Variant Prioritization Score for Impact Estimate 0.0693
- REVEL 0.03
- CADD 7.47
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the African/African-American population (allele frequency 5e-05)
- Structural context available