A70V (p.Ala70Val) variant of ITGB4 (Integrin beta-4)
A70V (p.Ala70Val) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- rs747831589
- NCI-TCGA Cosmic COSV5232
- cosmic curated COSV52325
- ExAC rs747831589
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.31
- CADD 13.00
- PolyPhen-2 0.08
- SIFT 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available