L41Q (p.Leu41Gln) variant of BARD1 (Q99728)
L41Q (p.Leu41Gln) in BARD1 (Q99728) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L41Q (p.Leu41Gln) variant details
- p.Leu41Gln
- gnomAD 2-214730270-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 20.20
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available
- Literature evidence available