H36Y (p.His36Tyr) variant of BARD1 (Q99728)
H36Y (p.His36Tyr) in BARD1 (Q99728) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
H36Y (p.His36Tyr) variant details
- p.His36Tyr
- gnomAD 2-214730259-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 17.00
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available