R43L (p.Arg43Leu) variant of NFE2L2 (Q16236)
R43L (p.Arg43Leu) in NFE2L2 (Q16236) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R43L (p.Arg43Leu) variant details
- p.Arg43Leu
- 1000Genomes rs35248500
- ESP rs35248500
- ExAC rs35248500
- TOPMed rs35248500
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.06
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Benign (in dbSNP:rs35248500)
- UniProt: Benign (in dbSNP:rs35248500)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available