V110A (p.Val110Ala) variant of LRBA (P50851)
V110A (p.Val110Ala) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
V110A (p.Val110Ala) variant details
- p.Val110Ala
- ExAC rs781020793
- TOPMed rs781020793
- gnomAD rs781020793
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- MetaLR 0.19
- MetaSVM -0.76
- CADD 25.40
- PolyPhen-2 0.29
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)