D47H (p.Asp47His) variant of ITGB4 (Integrin beta-4)
D47H (p.Asp47His) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D47H (p.Asp47His) variant details
- p.Asp47His
- gnomAD 17-75727254-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.53
- CADD 24.40
- PolyPhen-2 0.89
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available