A16V (p.Ala16Val) variant of ITGB4 (Integrin beta-4)
A16V (p.Ala16Val) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- ExAC rs773548728
- TOPMed rs773548728
- gnomAD rs773548728
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.07
- CADD 14.30
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available