V36A (p.Val36Ala) variant of PAX5 (Paired box protein Pax-5)
V36A (p.Val36Ala) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
V36A (p.Val36Ala) variant details
- p.Val36Ala
- cosmic curated COSV63908
- 1000Genomes rs564013593
- ExAC rs564013593
- gnomAD rs564013593
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.67
- MetaLR 0.95
- MetaSVM 1.07
- CADD 24.60
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)