S76N (p.Ser76Asn) variant of ITGB4 (Integrin beta-4)
S76N (p.Ser76Asn) 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.
S76N (p.Ser76Asn) variant details
- p.Ser76Asn
- gnomAD rs1210526442
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.30
- CADD 17.30
- PolyPhen-2 0.85
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available