A6S (p.Ala6Ser) variant of KCNQ5 (Q9NR82)
A6S (p.Ala6Ser) 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.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 6-72622205-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.36
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available