P38R (p.Pro38Arg) variant of UNC13D (Protein unc-13 homolog D)
P38R (p.Pro38Arg) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Familial hemophagocytic lymphohistiocytosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
P38R (p.Pro38Arg) variant details
- p.Pro38Arg
- rs202020609
- ClinGen CA8773671
- ClinVar RCV001512833
- 1000Genomes rs202020609
- Benign
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.0654
- REVEL 0.04
- CADD 4.26
- PolyPhen-2 0.12
- SIFT 0.52
- ClinVar: Benign (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available