A16D (p.Ala16Asp) variant of ITGB4 (Integrin beta-4)
A16D (p.Ala16Asp) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- gnomAD 17-75724750-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.35
- CADD 18.60
- PolyPhen-2 0.33
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available