T10T (p.Thr10Thr) variant of KCNE1 (P15382)
T10T (p.Thr10Thr) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T10T (p.Thr10Thr) variant details
- p.Thr10Thr
- rs187686559
- gnomAD 21-34449605-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0884
- CADD 1.10
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.42
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)
- Cited in: Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore. (PMID 16487223)