L39F (p.Leu39Phe) variant of SPTB (Spectrin beta chain, erythrocytic)
L39F (p.Leu39Phe) in SPTB (Spectrin beta chain, erythrocytic) 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 0.58 / 1. The record also includes population frequency data and published literature.
L39F (p.Leu39Phe) variant details
- p.Leu39Phe
- rs527744961
- ClinGen CA7231540
- ClinVar RCV004465372
- ClinVar RCV005632666
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- MetaLR 0.33
- MetaSVM -0.33
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence 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)