V13M (p.Val13Met) variant of KCNJ11 (Q14654)
V13M (p.Val13Met) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V13M (p.Val13Met) variant details
- p.Val13Met
- rs139079635
- ClinGen CA5902345
- ClinVar RCV002072596
- ClinVar RCV002552365
- Conflicting interpretations
- not specified; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.32
- CADD 19.80
- PolyPhen-2 0.41
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not specified; Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- 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)