P34L (p.Pro34Leu) variant of CSF3R (Q99062)
P34L (p.Pro34Leu) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Autosomal recessive severe congenital neutropenia due to CSF3R def. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs34362628
- ClinGen CA769569
- cosmic curated COSV10942
- ClinVar RCV000687030
- Uncertain significance
- not provided; Autosomal recessive severe congenital neutropenia due to CSF3R def
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.23
- CADD 15.40
- PolyPhen-2 0.09
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Autosomal recessive severe congenital neutropenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available