P14S (p.Pro14Ser) variant of GATA2 (P23769)
P14S (p.Pro14Ser) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscepti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- rs749214277
- ClinGen CA2600119
- ClinVar RCV000807890
- ClinVar RCV004721624
- Conflicting interpretations
- not provided; Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscepti
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.43
- AlphaMissense 0.08
- MetaLR 0.79
- MetaSVM 0.49
- CADD 23.60
- PolyPhen-2 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Deafness-lymphedema-leukemia syndrome; Monocytopen)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available