S20I (p.Ser20Ile) variant of KCNQ5 (Q9NR82)
S20I (p.Ser20Ile) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S20I (p.Ser20Ile) variant details
- p.Ser20Ile
- gnomAD 6-72622248-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.41
- CADD 23.80
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available