L24F (p.Leu24Phe) variant of REN (Renin)
L24F (p.Leu24Phe) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L24F (p.Leu24Phe) variant details
- p.Leu24Phe
- rs866965047
- ClinGen CA35740121
- ClinVar RCV003017949
- ClinVar RCV005473290
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.16
- MetaLR 0.13
- MetaSVM -0.98
- CADD 17.30
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)