R4S (p.Arg4Ser) variant of KCNJ11 (Q14654)
R4S (p.Arg4Ser) in KCNJ11 (Q14654) 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 0.74 / 1. The record also includes population frequency data and structural context.
R4S (p.Arg4Ser) variant details
- p.Arg4Ser
- rs543286136
- ClinGen CA238613
- ClinVar RCV000173148
- 1000Genomes rs543286136
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.74
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available