V44M (p.Val44Met) variant of KCNJ11 (Q14654)
V44M (p.Val44Met) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hyperinsulinemic hypoglycemia, familial, 2; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
V44M (p.Val44Met) variant details
- p.Val44Met
- rs1282255458
- ClinGen CA379776641
- ClinVar RCV001817931
- ClinVar RCV003772341
- Conflicting interpretations
- not provided; Hyperinsulinemic hypoglycemia, familial, 2; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.87
- CADD 25.50
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hyperinsulinemic hypoglycemia, familial, 2; not sp)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available