L14P (p.Leu14Pro) variant of INSR (Insulin receptor)
L14P (p.Leu14Pro) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Leprechaunism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- rs745857330
- ClinGen CA9136191
- ClinVar RCV000308234
- ClinVar RCV000365243
- Conflicting interpretations
- Inborn genetic diseases; not provided; Leprechaunism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.52
- MetaLR 0.48
- MetaSVM -0.22
- CADD 24.60
- PolyPhen-2 0.90
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Leprechaunism syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)