P21L (p.Pro21Leu) variant of BAG3 (O95817)
P21L (p.Pro21Leu) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- Ensembl rs1589619881
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.65
- AlphaMissense 0.34
- MetaLR 0.61
- MetaSVM 0.37
- CADD 26.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score -1.1