G40G (p.Gly40Gly) variant of KCNE1 (P15382)
G40G (p.Gly40Gly) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G40G (p.Gly40Gly) variant details
- p.Gly40Gly
- gnomAD 21-34449515-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.11
- Most common in the Non-Finnish European population (allele frequency 6.2e-06)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.36
- Literature evidence available