L73F (p.Leu73Phe) variant of LRBA (P50851)
L73F (p.Leu73Phe) in LRBA (P50851) 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.
L73F (p.Leu73Phe) variant details
- p.Leu73Phe
- gnomAD rs1259615979
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- MetaLR 0.41
- MetaSVM -0.27
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)