A29V (p.Ala29Val) variant of ITGA2B (Integrin alpha-IIb)
A29V (p.Ala29Val) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- rs760833641
- ClinGen CA8603548
- ClinVar RCV002980842
- ClinVar RCV006612784
- Uncertain significance
- Inborn genetic diseases; Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.20
- MetaLR 0.51
- MetaSVM -0.61
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases; Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)