L315P (p.Leu315Pro) variant of GATA2 (P23769)
L315P (p.Leu315Pro) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
L315P (p.Leu315Pro) variant details
- p.Leu315Pro
- rs2107670416
- ClinGen CA354404558
- ClinVar RCV001542103
- Ensembl rs2107670416
- Likely pathogenic
- Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to M
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Likely pathogenic (Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with sus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available