A6T (p.Ala6Thr) variant of KCNQ5 (Q9NR82)
A6T (p.Ala6Thr) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD 6-72622205-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.44
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available