V20L (p.Val20Leu) variant of ITGB4 (Integrin beta-4)
V20L (p.Val20Leu) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- ExAC rs751173051
- TOPMed rs751173051
- gnomAD rs751173051
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0644
- REVEL 0.07
- CADD 0.33
- PolyPhen-2 0.01
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available