M30K (p.Met30Lys) variant of PKD2 (Polycystin-2)
M30K (p.Met30Lys) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polycystic kidney disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
M30K (p.Met30Lys) variant details
- p.Met30Lys
- TOPMed rs1726226212
- gnomAD rs1726226212
- Uncertain significance
- Polycystic kidney disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.09
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Polycystic kidney disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available