V42I (p.Val42Ile) variant of ITGB4 (Integrin beta-4)
V42I (p.Val42Ile) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V42I (p.Val42Ile) variant details
- p.Val42Ile
- cosmic curated COSV52321
- Ensembl rs1568342331
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.18
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available