L70I (p.Leu70Ile) variant of AGTR1 (Type-1 angiotensin II receptor)
L70I (p.Leu70Ile) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L70I (p.Leu70Ile) variant details
- p.Leu70Ile
- rs753149496
- ClinGen CA2657288
- ClinVar RCV001997301
- ClinVar RCV002563538
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.75
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)