S6R (p.Ser6Arg) variant of MEFV (Pyrin)
S6R (p.Ser6Arg) 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 0.30 / 1. The record also includes population frequency data and structural context.
S6R (p.Ser6Arg) variant details
- p.Ser6Arg
- rs772221366
- ClinGen CA10577529
- ClinVar RCV000219881
- ExAC rs772221366
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.09
- CADD 16.80
- PolyPhen-2 0.09
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available