L143S (p.Leu143Ser) variant of ITGB3 (Integrin beta-3)
L143S (p.Leu143Ser) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
L143S (p.Leu143Ser) variant details
- p.Leu143Ser
- rs121918452
- ClinVar RCV004577679
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic (in GT2)
- UniProt: Likely pathogenic (in GT2)
- Structural context available