W30S (p.Trp30Ser) variant of ITGA2B (Integrin alpha-IIb)
W30S (p.Trp30Ser) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
W30S (p.Trp30Ser) variant details
- p.Trp30Ser
- gnomAD rs1131692013
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.66
- MetaLR 0.65
- MetaSVM 0.11
- CADD 24.40
- PolyPhen-2 0.50
- SIFT 0.19
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available