M82V (p.Met82Val) variant of LRBA (P50851)
M82V (p.Met82Val) 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.
M82V (p.Met82Val) variant details
- p.Met82Val
- gnomAD rs1258239236
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- MetaLR 0.25
- MetaSVM -0.79
- CADD 23.20
- PolyPhen-2 0.29
- SIFT 0.00
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)