M11V (p.Met11Val) variant of GATA2 (P23769)
M11V (p.Met11Val) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
M11V (p.Met11Val) variant details
- p.Met11Val
- rs774005466
- ClinGen CA2600121
- ClinVar RCV001886544
- ClinVar RCV004975754
- Conflicting interpretations
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.48
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.74
- ClinVar: Conflicting classifications of pathogenicity (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 7.1e-05)
- Structural context available
- 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)