R25S (p.Arg25Ser) variant of NFE2L2 (Q16236)
R25S (p.Arg25Ser) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
R25S (p.Arg25Ser) variant details
- p.Arg25Ser
- ExAC rs773805109
- TOPMed rs773805109
- gnomAD rs773805109
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.32
- CADD 24.10
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)