R6S (p.Arg6Ser) variant of PKD2 (Polycystin-2)
R6S (p.Arg6Ser) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- gnomAD 4-88007749-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.05
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available