P12S (p.Pro12Ser) variant of LRBA (P50851)
P12S (p.Pro12Ser) 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.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- gnomAD rs1474596690
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- MetaLR 0.14
- MetaSVM -1.00
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)