S20R (p.Ser20Arg) variant of KCNQ5 (Q9NR82)
S20R (p.Ser20Arg) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S20R (p.Ser20Arg) variant details
- p.Ser20Arg
- gnomAD 6-72622249-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.38
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available