D20E (p.Asp20Glu) variant of MEFV (Pyrin)
D20E (p.Asp20Glu) in MEFV (Pyrin) 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 0.48 / 1. The record also includes population frequency data and structural context.
D20E (p.Asp20Glu) variant details
- p.Asp20Glu
- rs747728640
- NCI-TCGA Cosmic COSV9956
- cosmic curated COSV99561
- ExAC rs747728640
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.23
- CADD 21.30
- PolyPhen-2 0.74
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available