S20G (p.Ser20Gly) variant of KCNQ5 (Q9NR82)
S20G (p.Ser20Gly) 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.
S20G (p.Ser20Gly) variant details
- p.Ser20Gly
- gnomAD rs1000167442
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.41
- CADD 24.00
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available