V55A (p.Val55Ala) variant of INSR (Insulin receptor)
V55A (p.Val55Ala) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leprechaunism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V55A (p.Val55Ala) variant details
- p.Val55Ala
- rs121913152
- ClinGen CA124253
- ClinVar RCV000015817
- UniProt VAR 004080
- Pathogenic
- Leprechaunism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.81
- MetaLR 0.74
- MetaSVM 0.68
- CADD 26.60
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic (Leprechaunism syndrome)
- EBI: Pathogenic (in LEPRCH)
- UniProt: Pathogenic (in LEPRCH)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis. (PMID 1607067)
- Cited in: Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. (PMID 27896077)