A33D (p.Ala33Asp) variant of ITGB4 (Integrin beta-4)
A33D (p.Ala33Asp) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A33D (p.Ala33Asp) variant details
- p.Ala33Asp
- gnomAD 17-75727213-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.38
- CADD 22.90
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available