D47V (p.Asp47Val) variant of ITGB4 (Integrin beta-4)
D47V (p.Asp47Val) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
D47V (p.Asp47Val) variant details
- p.Asp47Val
- gnomAD 17-75727255-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.76
- CADD 26.80
- PolyPhen-2 0.69
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available