N99K (p.Asn99Lys) variant of MEFV (Pyrin)
N99K (p.Asn99Lys) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
N99K (p.Asn99Lys) variant details
- p.Asn99Lys
- ESP rs104895175
- ExAC rs104895175
- TOPMed rs104895175
- gnomAD rs104895175
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0923
- REVEL 0.10
- CADD 0.15
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available