C61F (p.Cys61Phe) variant of ITGB4 (Integrin beta-4)
C61F (p.Cys61Phe) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
C61F (p.Cys61Phe) variant details
- p.Cys61Phe
- gnomAD 17-75727423-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.97
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available