S28S (p.Ser28Ser) variant of KCNE1 (P15382)
S28S (p.Ser28Ser) 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.
S28S (p.Ser28Ser) variant details
- p.Ser28Ser
- rs17173510
- gnomAD 21-34449551-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0819
- CADD 0.18
- Most common in the HGDP:BASQUE population (allele frequency 0.11)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.27
- Cited in: Ménière's Disease: Molecular Analysis of Aquaporins 2, 3 and Potassium Channel KCNE1 Genes in Brazilian Patients. (PMID 27509294)
- Cited in: An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus. (PMID 24710009)