M95V (p.Met95Val) variant of LRBA (P50851)
M95V (p.Met95Val) in LRBA (P50851) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Combined immunodeficiency due to LRBA deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and published literature.
M95V (p.Met95Val) variant details
- p.Met95Val
- rs149204587
- ClinGen CA3103911
- ClinVar RCV002014550
- ClinVar RCV005660272
- Uncertain significance
- Inborn genetic diseases; Combined immunodeficiency due to LRBA deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- MetaLR 0.36
- MetaSVM -0.35
- CADD 24.60
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Combined immunodeficiency due to LRBA d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)