P27R (p.Pro27Arg) variant of LRBA (P50851)
P27R (p.Pro27Arg) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- TOPMed rs938367671
- gnomAD rs938367671
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- MetaLR 0.14
- MetaSVM -0.99
- CADD 19.40
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 2.4e-05)