R29S (p.Arg29Ser) variant of ITGB4 (Integrin beta-4)
R29S (p.Arg29Ser) 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 0.45 / 1. The record also includes population frequency data and structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- cosmic curated COSV10456
- ESP rs138695324
- ExAC rs138695324
- TOPMed rs138695324
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.38
- CADD 23.20
- PolyPhen-2 0.55
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available