S43N (p.Ser43Asn) variant of MEFV (Pyrin)
S43N (p.Ser43Asn) 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; MEFV-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S43N (p.Ser43Asn) variant details
- p.Ser43Asn
- rs769518848
- ClinGen CA7860528
- ClinVar RCV000996179
- ClinVar RCV004528330
- Uncertain significance
- not provided; MEFV-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.24
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; MEFV-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available