R43Q (p.Arg43Gln) variant of NFE2L2 (Q16236)
R43Q (p.Arg43Gln) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- rs35248500
- ClinGen CA161113
- cosmic curated COSV67961
- ClinVar RCV000121650
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.06
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs35248500)
- UniProt: Benign (in dbSNP:rs35248500)
- Most common in the HGDP:MANDENKA population (allele frequency 0.05)
- Structural context available