P3L (p.Pro3Leu) variant of HFE (Q30201)
P3L (p.Pro3Leu) in HFE (Q30201) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- rs1190491989
- NCI-TCGA Cosmic COSV5851
- cosmic curated COSV58513
- gnomAD rs1190491989
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.03
- CADD 12.80
- PolyPhen-2 0.38
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available