T50S (p.Thr50Ser) variant of LAMB3 (Laminin subunit beta-3)
T50S (p.Thr50Ser) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
T50S (p.Thr50Ser) variant details
- p.Thr50Ser
- gnomAD rs1244998532
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.20
- CADD 23.30
- PolyPhen-2 0.90
- SIFT 0.23
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available