R43W (p.Arg43Trp) variant of NFE2L2 (Q16236)
R43W (p.Arg43Trp) 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 0.34 / 1. The record also includes population frequency data and structural context.
R43W (p.Arg43Trp) variant details
- p.Arg43Trp
- rs182428269
- ClinGen CA161105
- cosmic curated COSV10611
- ClinVar RCV000121648
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.12
- CADD 25.00
- PolyPhen-2 0.33
- SIFT 0.00
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs35248500)
- UniProt: Benign (in dbSNP:rs35248500)
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available