P29S (p.Pro29Ser) variant of KCNQ2 (O43526)
P29S (p.Pro29Ser) in KCNQ2 (O43526) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- TOPMed rs1443768998
- gnomAD rs1443768998
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.38
- CADD 21.90
- PolyPhen-2 0.20
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available