A21V (p.Ala21Val) variant of ITGB3 (Integrin beta-3)
A21V (p.Ala21Val) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs772418775
- ClinGen CA8622838
- cosmic curated COSV71385
- ClinVar RCV000523191
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- MetaLR 0.05
- MetaSVM -0.98
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available