R10Q (p.Arg10Gln) variant of BARD1 (Q99728)
R10Q (p.Arg10Gln) 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 0.25 / 1. The record also includes population frequency data and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- cosmic curated COSV10638
- Ensembl rs2106171963
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.11
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available