T39M (p.Thr39Met) variant of ITGB4 (Integrin beta-4)
T39M (p.Thr39Met) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
T39M (p.Thr39Met) variant details
- p.Thr39Met
- cosmic curated COSV52322
- ESP rs372947104
- TOPMed rs372947104
- gnomAD rs372947104
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.56
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available