V82I (p.Val82Ile) variant of PAX5 (Paired box protein Pax-5)
V82I (p.Val82Ile) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
V82I (p.Val82Ile) variant details
- p.Val82Ile
- rs587778589
- ClinGen CA161363
- ClinVar RCV000121766
- ClinVar RCV003688827
- Benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.67
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.14
- CADD 23.60
- PolyPhen-2 1.00
- ClinVar: Benign (not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.001)