S20C (p.Ser20Cys) variant of KCNQ5 (Q9NR82)
S20C (p.Ser20Cys) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S20C (p.Ser20Cys) variant details
- p.Ser20Cys
- gnomAD 6-72622247-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.44
- CADD 24.50
- PolyPhen-2 0.34
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available