L99P (p.Leu99Pro) variant of LRBA (P50851)
L99P (p.Leu99Pro) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
L99P (p.Leu99Pro) variant details
- p.Leu99Pro
- gnomAD rs1463353811
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- MetaLR 0.51
- MetaSVM 0.11
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)