Q22Q (p.Gln22Gln) variant of KCNE1 (P15382)
Q22Q (p.Gln22Gln) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q22Q (p.Gln22Gln) variant details
- p.Gln22Gln
- gnomAD 21-34449569-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0818
- CADD 0.21
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.48
- Literature evidence available