V42F (p.Val42Phe) variant of ITGB4 (Integrin beta-4)
V42F (p.Val42Phe) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V42F (p.Val42Phe) variant details
- p.Val42Phe
- gnomAD 17-75727239-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.51
- CADD 22.50
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available