L118Q (p.Leu118Gln) variant of LRBA (P50851)
L118Q (p.Leu118Gln) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
L118Q (p.Leu118Gln) variant details
- p.Leu118Gln
- gnomAD rs1441333283
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- MetaLR 0.45
- MetaSVM -0.04
- CADD 27.40
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)