V4M (p.Val4Met) variant of BUB1B (O60566)
V4M (p.Val4Met) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V4M (p.Val4Met) variant details
- p.Val4Met
- rs147549987
- ClinGen CA157741
- ClinVar RCV000120414
- ClinVar RCV000475422
- Likely benign
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.08
- MetaLR 0.01
- MetaSVM -1.01
- CADD 7.40
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Likely benign (Inborn genetic diseases; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- 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)