A25S (p.Ala25Ser) variant of KCNQ5 (Q9NR82)
A25S (p.Ala25Ser) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- TOPMed rs1355204350
- gnomAD rs1355204350
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.45
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available