P11P (p.Pro11Pro) variant of KCNE1 (P15382)
P11P (p.Pro11Pro) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P11P (p.Pro11Pro) variant details
- p.Pro11Pro
- gnomAD 21-34449602-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 6.22
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 1.07
- Literature evidence available