V29A (p.Val29Ala) variant of BUB1B (O60566)
V29A (p.Val29Ala) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V29A (p.Val29Ala) variant details
- p.Val29Ala
- rs771937088
- ClinGen CA7475349
- ClinVar RCV002747283
- ExAC rs771937088
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.25
- MetaLR 0.08
- MetaSVM -1.05
- CADD 26.40
- PolyPhen-2 0.64
- SIFT 0.65
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)