N78T (p.Asn78Thr) variant of MEFV (Pyrin)
N78T (p.Asn78Thr) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
N78T (p.Asn78Thr) variant details
- p.Asn78Thr
- ESP rs145015653
- ExAC rs145015653
- TOPMed rs145015653
- gnomAD rs145015653
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.46
- AlphaMissense 0.66
- MetaLR 0.43
- MetaSVM -0.35
- CADD 25.10
- PolyPhen-2 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available