C102R (p.Cys102Arg) variant of LRBA (P50851)
C102R (p.Cys102Arg) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
C102R (p.Cys102Arg) variant details
- p.Cys102Arg
- ExAC rs770397159
- gnomAD rs770397159
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- MetaLR 0.33
- MetaSVM -0.39
- CADD 27.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)