V14M (p.Val14Met) variant of ITGB3 (Integrin beta-3)
V14M (p.Val14Met) in ITGB3 (Integrin beta-3) 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 0.24 / 1. The record also includes population frequency data and structural context.
V14M (p.Val14Met) variant details
- p.Val14Met
- rs115600591
- ClinGen CA8622831
- ClinVar RCV000224944
- ClinVar RCV000364007
- Benign
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- MetaLR 0.01
- MetaSVM -1.05
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Benign (Glanzmann thrombasthenia)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YORUBA population (allele frequency 0.1)
- Structural context available