L51V (p.Leu51Val) variant of LRBA (P50851)
L51V (p.Leu51Val) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
L51V (p.Leu51Val) variant details
- p.Leu51Val
- ExAC rs773791282
- gnomAD rs773791282
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- MetaLR 0.46
- MetaSVM -0.17
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)