A27S (p.Ala27Ser) variant of KCNQ5 (Q9NR82)
A27S (p.Ala27Ser) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- gnomAD 6-72622268-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.44
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available