R6P (p.Arg6Pro) variant of KCNQ2 (O43526)
R6P (p.Arg6Pro) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- rs866843916
- ClinGen CA409636279
- ClinVar RCV000493933
- ClinVar RCV002527075
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 0.30
- MetaLR 0.93
- MetaSVM 0.93
- PolyPhen-2 0.88
- SIFT 0.01
- MutPred 0.32
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)