D103H (p.Asp103His) variant of MEFV (Pyrin)
D103H (p.Asp103His) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
D103H (p.Asp103His) variant details
- p.Asp103His
- rs757543348
- ClinGen CA7860460
- ClinVar RCV000221488
- ExAC rs757543348
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.20
- CADD 1.24
- PolyPhen-2 0.26
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available