P68S (p.Pro68Ser) variant of KCNQ2 (O43526)
P68S (p.Pro68Ser) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P68S (p.Pro68Ser) variant details
- p.Pro68Ser
- gnomAD rs1178754319
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.41
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.89
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available