R31H (p.Arg31His) variant of BARD1 (Q99728)
R31H (p.Arg31His) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, 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 0.15 / 1. The record also includes population frequency data and structural context.
R31H (p.Arg31His) variant details
- p.Arg31His
- rs2469638482
- ClinGen CA350465074
- ClinVar RCV003477433
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.17
- CADD 7.63
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available