S38G (p.Ser38Gly) variant of KCNE1 (P15382)
S38G (p.Ser38Gly) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not provided; Long QT syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S38G (p.Ser38Gly) variant details
- p.Ser38Gly
- rs1805127
- ClinGen CA131330
- cosmic curated COSV61606
- ClinVar RCV000035351
- Benign/Likely benign
- Cardiovascular phenotype; not provided; Long QT syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 2.36
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not provided; Long QT syndrome 5)
- EBI: Benign (in dbSNP:rs1805127)
- UniProt: Benign (in dbSNP:rs1805127)
- Most common in the 1KG:BEB population (allele frequency 0.012)
- Structural context available
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss. (PMID 16823764)