D7N (p.Asp7Asn) variant of MEFV (Pyrin)
D7N (p.Asp7Asn) 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 0.50 / 1. The record also includes population frequency data and structural context.
D7N (p.Asp7Asn) variant details
- p.Asp7Asn
- NCI-TCGA TCGA novel
- Ensembl rs2141679746
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.28
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available