D20V (p.Asp20Val) variant of BUB1B (O60566)
D20V (p.Asp20Val) in BUB1B (O60566) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
D20V (p.Asp20Val) variant details
- p.Asp20Val
- gnomAD rs2037079879
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.21
- MetaLR 0.04
- MetaSVM -1.12
- CADD 23.40
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available