S3Y (p.Ser3Tyr) variant of KCNJ11 (Q14654)
S3Y (p.Ser3Tyr) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S3Y (p.Ser3Tyr) variant details
- p.Ser3Tyr
- gnomAD 11-17388084-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.46
- CADD 28.20
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available