S49F (p.Ser49Phe) variant of BUB1B (O60566)
S49F (p.Ser49Phe) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S49F (p.Ser49Phe) variant details
- p.Ser49Phe
- rs780380816
- ClinGen CA7475357
- ClinVar RCV002396906
- ExAC rs780380816
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -0.97
- CADD 23.90
- PolyPhen-2 0.65
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)