P8H (p.Pro8His) variant of DICER1 (Endoribonuclease Dicer)
P8H (p.Pro8His) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DICER1-related tumor predisposition. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P8H (p.Pro8His) variant details
- p.Pro8His
- rs1894130122
- ClinGen CA390890781
- ClinVar RCV001225082
- Ensembl rs1894130122
- Uncertain significance
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.09
- CADD 23.20
- PolyPhen-2 0.17
- SIFT 0.04
- ClinVar: Uncertain significance (DICER1-related tumor predisposition)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)