S76G (p.Ser76Gly) variant of ITGB4 (Integrin beta-4)
S76G (p.Ser76Gly) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S76G (p.Ser76Gly) variant details
- p.Ser76Gly
- TOPMed rs1483602810
- gnomAD rs1483602810
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.26
- CADD 18.00
- PolyPhen-2 0.06
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available