P24L (p.Pro24Leu) variant of BARD1 (Q99728)
P24L (p.Pro24Leu) in BARD1 (Q99728) 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 0.33 / 1. The record also includes population frequency data and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- TOPMed rs863224674
- gnomAD rs863224674
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.25
- CADD 21.80
- PolyPhen-2 0.06
- SIFT 0.04
- EBI: Variant of uncertain significance (in dbSNP:rs1048108)
- UniProt: Uncertain significance (in dbSNP:rs1048108)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available