A49S (p.Ala49Ser) variant of ITGB4 (Integrin beta-4)
A49S (p.Ala49Ser) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A49S (p.Ala49Ser) variant details
- p.Ala49Ser
- rs146966502
- NCI-TCGA Cosmic COSV5233
- cosmic curated COSV52331
- 1000Genomes rs146966502
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.41
- CADD 23.90
- PolyPhen-2 0.60
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available