L41S (p.Leu41Ser) variant of BARD1 (Q99728)
L41S (p.Leu41Ser) in BARD1 (Q99728) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L41S (p.Leu41Ser) variant details
- p.Leu41Ser
- gnomAD 2-214730276-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 22.40
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available