D29Y (p.Asp29Tyr) variant of BARD1 (Q99728)
D29Y (p.Asp29Tyr) in BARD1 (Q99728) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D29Y (p.Asp29Tyr) variant details
- p.Asp29Tyr
- NCI-TCGA Cosmic COSV9963
- cosmic curated COSV99638
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.11
- CADD 21.20
- PolyPhen-2 0.02
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available