L3L (p.Leu3Leu) variant of KCNE1 (P15382)
L3L (p.Leu3Leu) 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.
L3L (p.Leu3Leu) variant details
- p.Leu3Leu
- rs868666103
- gnomAD 21-34449626-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 4.07
- Most common in the HGDP:BEDOUIN population (allele frequency 0.014)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.24
- Literature evidence available