I44V (p.Ile44Val) variant of BBS4 (BBSome complex member BBS4)
I44V (p.Ile44Val) in BBS4 (BBSome complex member BBS4) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
I44V (p.Ile44Val) variant details
- p.Ile44Val
- rs749951346
- ClinGen CA7646506
- ClinVar RCV003305073
- ExAC rs749951346
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.07
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.91
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)