Y46Y (p.Tyr46Tyr) variant of KCNE1 (P15382)
Y46Y (p.Tyr46Tyr) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y46Y (p.Tyr46Tyr) variant details
- p.Tyr46Tyr
- rs758346045
- gnomAD 21-34449497-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 8.04
- Most common in the Non-Finnish European population (allele frequency 8.4e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.03
- Literature evidence available