A14T (p.Ala14Thr) variant of KCNQ5 (Q9NR82)
A14T (p.Ala14Thr) 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.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- gnomAD 6-72622229-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.37
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available