S38R (p.Ser38Arg) variant of KCNE1 (P15382)
S38R (p.Ser38Arg) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S38R (p.Ser38Arg) variant details
- p.Ser38Arg
- 1000Genomes rs1805127
- ESP rs1805127
- ExAC rs1805127
- gnomAD rs1805127
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 4.88
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Benign (in dbSNP:rs1805127)
- UniProt: Benign (in dbSNP:rs1805127)
- Population evidence available
- Structural context available