A33S (p.Ala33Ser) variant of KCNJ11 (Q14654)
A33S (p.Ala33Ser) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A33S (p.Ala33Ser) variant details
- p.Ala33Ser
- gnomAD 11-17387995-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.52
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.75
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available