K25T (p.Lys25Thr) variant of MEFV (Pyrin)
K25T (p.Lys25Thr) 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 0.60 / 1. The record also includes population frequency data and structural context.
K25T (p.Lys25Thr) variant details
- p.Lys25Thr
- rs924530771
- ClinGen CA276904559
- cosmic curated COSV54823
- ClinVar RCV003740511
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.64
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available