P41A (p.Pro41Ala) variant of GATA2 (P23769)
P41A (p.Pro41Ala) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P41A (p.Pro41Ala) variant details
- p.Pro41Ala
- rs143590990
- ClinGen CA2600100
- cosmic curated COSV10590
- ClinVar RCV000227295
- Conflicting interpretations
- Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.72
- CADD 22.10
- PolyPhen-2 0.13
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome;)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)