L147V (p.Leu147Val) variant of ITGA2B (Integrin alpha-IIb)
L147V (p.Leu147Val) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L147V (p.Leu147Val) variant details
- p.Leu147Val
- rs76066357
- ClinGen CA351291
- ClinVar RCV000244527
- ClinVar RCV000860829
- Benign
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.05
- MetaLR 0.17
- MetaSVM -0.92
- CADD 15.90
- PolyPhen-2 0.04
- SIFT 0.25
- ClinVar: Benign (Glanzmann thrombasthenia)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available