N78I (p.Asn78Ile) variant of MEFV (Pyrin)
N78I (p.Asn78Ile) 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 0.52 / 1. The record also includes structural context.
N78I (p.Asn78Ile) variant details
- p.Asn78Ile
- rs145015653
- ClinGen CA10577528
- ClinVar RCV000217942
- ESP rs145015653
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- AlphaMissense 0.66
- MetaLR 0.43
- MetaSVM -0.35
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available